The company |  Tests details, prices & order |  Edelscan |  Evolugene |  News |  Advisory board |  Contacts

Tests details, prices & order

Please find our tests details and prices below. You can contact us to obtain our conditions concerning prices reductions.

The client (laboratory/physician) has to send a sample attached to our order form to one of our certified partner laboratories - this laboratory will directly return the result to the client. There is a specific order form for each test. You may download our order forms by clicking on the desired test.

If you are interested in tests that we do not offer in our exhaustive list, please contact us - we have the possibility of proposing new tests upon request.

All tests

Category of genetic disorder

DNA CHIPS

High frequency in Jewish populations

Mitochondrial

Pharmacogenomic

FISH

Enter Disease or OMIM or Mutation  

Analysis name	OMIM	Gene	Mutation	Technique	Duration	Material to be sent	Test accreditation / EQA	Laboratory accreditation / EQA	Price (Euros)
Achondroplasia	100800	FGFR3	c.1138G>A; c.1138G>C	Sequencing	20 days	2 micrograms DNA		ISO 17025:2005 / EMQN	290
Acute Myeloid Leukemia M1, M2		FLT - 3	Internal Tandem Duplication and Mutation D835	PCR	5 days	4 micrograms DNA		ISO 15189	290
Acute Myeloid Leukemia, Mast Cell Leukemia, mastocytosis		c - KIT	mutations in exons 8, 11 and 17	PCR and Sequencing	12 days	4 micrograms DNA			460
Acyl - CoA dehydrogenase medium chain deficiency	201450	MCAD	mutation A985G	PCR and RFLP	1 month	2 micrograms DNA			170
Adenomatosous polyposis of the colon	175100	APC	whole gene	Sequencing	20-30 days	2 micrograms DNA			650
Adenomatosous polyposis of the colon		MYH	Sequencing	Sequencing		2 micrograms DNA			1330
Adult Polycistic Kidney Disease	#173900	PKD1	linkage analysis	microsatellites	30 - 60days	4 micrograms DNA		UNI EN ISO 9001 - CERMET / EMNQ, Istituto Superiore Sanità	880
Adult polycystic kidneys - PKD1, PKD2	173900	PKD1, PKD2	2 whole genes	Sequencing	3 months	2 micrograms DNA	CLIA	CLIA	3900
Alagille syndrome	118450	JAG1	all coding exons	Sequencing	30 days	2 micrograms DNA		ISO 17025:2005 / EMQN	3500
Alpha - galactosidase A (GLA)	301500	GLA	Genomic Sequencing of the entire coding region	Genomic Sequencing of the entire coding region	2 - 4 weeks	2 micrograms DNA		DGKL, CAP	770
Alpha - thalassemia	141800	HBA	deletion 3,7 KB	RFLP's	25 days	2 micrograms DNA	AEGH	ISO 17025 EN PROCESS	290
Alpha - thalassemia	#141750	HBA2, Alpha Globin	del 3,7 Kb MED del 4,2 Kb del 20,5 Kb HphI NcoI	DNA extraction + amplification + hybridization	15 days	2 micrograms DNA			190
Alpha - thalassemia deletion 3,7 Kb	#141750	HBA2, Alpha Globin	del 3,7 Kb	DNA extraction + amplification + electrophoresis	15 days	2 micrograms DNA			148
Alpha - thalassemias	141800	Alpha - GLOBIN GENES	3,7/ 20,5/ Med deletions	Multiplex PCR	2 weeks	2 micrograms DNA		CAP	290
Alpha 1 antitrypsin deficiency	107400	PI	HAPLOtype	RFLP's	20 days	2 micrograms DNA	AEGH	ISO 17025 EN PROCESS	440
Alport syndrome, autosomal recessive	203780	COL4A3 + COL4A4	all coding exons	Sequencing	30 days	2 micrograms DNA		ISO 17025:2005 / EMQN	15000
Alport syndrome, X - linked	301050	COL4A5	all coding exons	Sequencing	30 days	2 micrograms DNA		ISO 17025:2005 / EMQN	8880
Alzheimer disease I - (AD1)	104760	APP	point mutation	PCR - SSCP - DNA Sequencing	3 days	2 micrograms DNA		CAP	490
Alzheimer disease II - (AD2)	104310	APOE	E2,E3,E4 alleles	PCR - RFLP	3 days	2 micrograms DNA		CAP	130
Alzheimer disease II - all coding exons	104760	APP	all coding exons	Sequencing	20 days	2 micrograms DNA		ISO 17025:2005 / EMQN	550
Alzheimer disease PSN1	104311	PSN1	regulatory region + entire coding region	Sequencing	20 days	2 micrograms DNA		ISO 17025:2005 / EMQN	4400
Alzheimer disease PSN2	104300	PSN2	all coding exons	Sequencing	20 days	2 micrograms DNA		ISO 17025:2005 / EMQN	380
Alzheimer, early onset, AD3	104310	Apo E	HAPLOtype	RFLP's	15 days	2 micrograms DNA	AEGH	ISO 17025 EN PROCESS	290
Alzheimer, early onset, AD3	104311	PSEN1	whole gene	Sequencing	45 days	2 micrograms DNA	AEGH	ISO 17025 EN PROCESS	770
Amino acid transporter responsible for LPI (SLC7A7)	603593	LPI	Genomic Sequencing of the entire coding region	Genomic Sequencing of the entire coding region	2 - 4 weeks	2 micrograms DNA		DGKL,CAP	980
Amyotrophic Lateral Sclerosis, ALS1	#105400	SOD1	mutations	polymerase chain reaction sequence analysis	10 days	4 micrograms DNA		UNI EN ISO 9001 - CERMET / EMNQ, Istituto Superiore Sanità	770
Angelman syndrome	105830	UBE3A	all coding exons	Sequencing		2 micrograms DNA		ISO 2001	1200
Angiotensin I - converting enzyme (ACE)	106180	ACE1, DCP1	Fragment analysis	Fragment analysis	2 - 4 weeks	2 micrograms DNA	DGKL	DGKL,CAP	150
Anion exchange protein (1SLC4A1)	109270	BND3, EMPB3, EPB3, AE1	Genomic Sequencing of the entire coding region	Genomic Sequencing of the entire coding region	2 - 4 weeks	2 micrograms DNA		DGKL,CAP	1100
Antithrombin 3 (SERPINC1)	107300	AT3, AT - III	Genomic Sequencing of the entire coding region	Genomic Sequencing of the entire coding region	2 - 4 weeks	2 micrograms DNA		DGKL,CAP	590
Antithrombin Deficiency	107300	SERPINC1	Analysis for known mutations	usually PCR & Sequencing	10 days	2 micrograms DNA		CPA UK and UKHCDO	320
Antithrombin Deficiency	107300	SERPINC1	Full gene analysis	dHPLC & Sequencing	30 days	2 micrograms DNA		CPA UK and UKHCDO	880
Apert syndrome	101200	FGFR2	M (S225W, P253R)	Sequencing Ex8 ex10	< 2 months	2 micrograms DNA		in preparation	400
Apert syndrome Acrocephalosyndactylya type I	#101200	FGFR2	S252W/ F P253R	DNA extraction + amplification + sequence	20 days	2 micrograms DNA			330
Apolipoprotein B - 100 Deficiency	107730	APOB 100	R3500Q, R3500W, R3531C	Sequencing	4 days	2 micrograms DNA			175
Apolipoprotein C2(APOC2)	207750	APOC2	Genomic Sequencing of the entire coding region	Genomic Sequencing of the entire coding region	2 - 4 weeks	2 micrograms DNA		DGKL,CAP	450
Aquaporin 2(AQP2)	107777		Genomic Sequencing of the entire coding region	Genomic Sequencing of the entire coding region	2 - 4 weeks	2 micrograms DNA		DGKL,CAP	450
Arginine vasopressin receptor 2 (AVPR2)	300538	ADHR, V2R, V2	Genomic Sequencing of the entire coding region	Genomic Sequencing of the entire coding region	2 - 4 weeks	2 micrograms DNA		DGKL,CAP	490
Ashkenazi Jewish diseases panel		HEX A, BLM, ASPA, SMPD1, IKBKAP, DYT1, MCOLN1, FANCC, F11, G6PC, BCKHDB, GJB2, MEFV, GDE (or Amylo-1,6-glucosidase), GBA and CFTR.	83 mutations	PCR and APEX	1 month	2,5 micrograms DNA		ISO 9001:2000	390
Autosomal Dominant Retinitis Pigmentosa	600105, 608380	Ca4, FSCN2, IMPDH1, NRL, PRPF3, PRPF31, PRPF8, RDS, RHO, ROM1, RP1, RP9, CRX	341 positions	PCR and APEX	1 month	2,5 micrograms DNA			390
Autosomal Recessive Retinitis Pigmentosa		CERKL, CNGA1, CNGB1, MERTK, PDE6A, PDE6B, PNR, RDH12, RGR, RLBP1, SAG, TULP1, CRB, RPE65, USH2A, USH3A		PCR and APEX	1 month	6 micrograms DNA			390
Azoo - oligozoospermia	400003	Yq11	Y deletion	PCR (promega Y deletion kit)	6 - 8 weeks	2 micrograms DNA	EMQN	in preparation	400
Azoospermia_deletions (AZF regions) - microdeletions	400003	DAZ, KALY, RBM	microdeletions	Multiplex PCR	1 week	2 micrograms DNA		CAP	380
Bardet Biedl Syndrome		BBS1, BBS2, BBS3, BBS4, BBS5, BBS6, BBS7, BBS8, BBS9, BBS10, PHF6, ALMS1, GNAS1	248 mutations	PCR and APEX	1 month	4 micrograms DNA		ISO 9001:2000	450
Barth syndrome	302060	TAZ		point mutation analysis		2 micrograms DNA			1100
Beare - Stevenson syndrome	#123790	FGFR2	S372C Y375C	DNA extraction + amplification + sequence	20 days	2 micrograms DNA			240
Becker Muscular Dystrophy (BMD)	300 376 310 200	Dystrophin	exon 3, 4, 6, 8, 12, 13, 16, 17, 19, 32, 34, 41, 42, 43, 44, 45, 47, 48, 49, 50, 51, 52, 60, pb pm	Multiplex PCR	1 month	2 micrograms DNA	EMQN - 2005		400
Beckwith - Wiedemann	130650	CDKNC1 (p57)	all coding exons	Sequencing	30 days	2 micrograms DNA		ISO 2001	750
Beckwith - Wiedemann	130650	H19	methylation		30 days	2 micrograms DNA		ISO 2001	290
Beckwith - Wiedemann	130650	LIT 1	methylation		30 days	2 micrograms DNA		ISO 2001	290
Beckwith - Wiedemann	130650		microsatellite in 11p15.5		30 days	2 micrograms DNA		ISO 2001	390
Bernard - Soulier syndrome	231200	GP1BA, GP1BB & GP9	Analysis for known mutations	usually PCR & Sequencing	10 days	2 micrograms DNA		CPA UK and UKHCDO	320
Bernard - Soulier syndrome	231200	GP1BA, GP1BB & GP9	Full gene analysis	dHPLC & Sequencing	60 days	2 micrograms DNA		CPA UK and UKHCDO	1900
Beta - thalassemia	#603902	HBB, Beta - Globin	Exon 1 + 2 + 3 Intron 1 + 2	DNA extraction + amplification + sequence	15 days	2 micrograms DNA			220
Beta Thalassemia	191901	Beta Thalassemia	whole gene	Sequencing	10 days	2 micrograms DNA			345
Bloom Syndrome	210900	BLM	BLM-ASH	ASO	3 weeks	5 micrograms DNA	NYS-DOH	CLIA NYS-DOH CAP	1-20 samples a month 135; 21-100 samples a month 115; over 100 samples a month 95
Breast and Ovarian cancer (BRCA1 and BRCA2)	113705, 600185	BRCA 1 and BRCA 2 full genes screening	TGCE (Temperature Gradient Capillary Electrophoresis; Transgenomics Inc.) + analysis of all exons and exons - introns boundaries with bidirectional sequencing of all variant profiles + MLPA (Multiplex Ligation-dependent Probe Amplification; MRC Holland) for major deletions or insertions.		2 months	2 micrograms DNA	EMQN	EMQN	1200 Euro for 0 - 10 samples per month; 1150 Euro for 11 to 100 samples per month; 950 Euro for 101 samples per month and above
Breast and Ovarian cancer (BRCA1)	113705	BRCA1	whole gene	Sequencing + MLPA	20-30 days	2 micrograms DNA			650
Breast and Ovarian cancer (BRCA2)	600185	BRCA2	whole gene	Sequencing + MLPA	20-30 days	2 micrograms DNA			650
Brugada syndrome	601144	SCN5A	Mutation hotspots	Sequencing		2 micrograms DNA	ISO 17025	ISO 17025	3500
Calcium sensing receptor (CASR)	601199	PCAR1	Genomic Sequencing of the entire coding region	Genomic Sequencing of the entire coding region	2 - 4 weeks	2 micrograms DNA		DGKL,CAP	770
Canavan Disease	271900	ASPA	E285A, Y231X	ASO	3 weeks	5 micrograms DNA	NYS-DOH	CLIA NYS-DOH CAP	1-20 samples a month 135; 21-100 samples a month 115; over 100 samples a month 95
Carbonic anhydrase 2(CA2)	259730	CA II	Genomic Sequencing of the entire coding region	Genomic Sequencing of the entire coding region	2 - 4 weeks	2 micrograms DNA		DGKL,CAP	590
Cardiofaciocutaneus syndrome, CFC	115150	BRAF	mutation screening of exons 6,11,12	CSGE + Sequencing	30 days	5 micrograms DNA		EMQN	650
Cardiovascular and Alzheimer's risk - C112R, R158C	107741	APOE	C112R, R158C	Sequencing	20 days	2 micrograms DNA		ISO 17025:2005 / EMQN	190
Cardiovascular risk	602601	LOX1, - 188C - T	allelic variant	polymerase chain reaction reverse dot blot hybridisation	7 days	4 micrograms DNA		UNI EN ISO 9001 - CERMET / EMNQ, Istituto Superiore Sanità	220
Cardiovascular risk - Cys112Arg, Arg158Cys, Arg3500Gln	107741	APOE + APOB	Cys112Arg, Arg158Cys, Arg3500Gln	PCR and reverse hybridization	2 weeks	2 micrograms DNA			260
Carnitine Palmitoyltransferase II	650	CPTII	all coding exons	Sequencing (all coding exons)	< 2 months	2 micrograms DNA		in preparation	800
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy (CADASIL)	125310	HOTCH3	whole gene	Sequencing	3 months	2 micrograms DNA	AEGH	ISO 17025 EN PROCESS	2400
Ceroid lipofuscinosis neuronal 3 juvenile Batten disease (CLN3)	204200	CLN3	exons 7 - 8 deletion	PCR	1 month	2 micrograms DNA			210
Ceroid Lipofuscinosis, neuronal type 6	601780	CLN6	all coding exons	Sequencing (all coding exons)	2 - 4 months	2 micrograms DNA		in preparation	800
Charcot - Marie - tooth 1A	118220	PMP22	whole gene	Sequencing	45 days	2 micrograms DNA	AEGH	ISO 17025 EN PROCESS	890
Charcot - Marie - tooth 1B	118200	MPZ	whole gene	Sequencing	45 days	2 micrograms DNA	AEGH	ISO 17025 EN PROCESS	1390
Charcot - Marie - tooth 1E	118300	PMP22	whole gene	Sequencing	45 days	2 micrograms DNA	AEGH	ISO 17025 EN PROCESS	990
Charcot - Marie - tooth 2I	607677	MPZ	whole gene	Sequencing	45 days	2 micrograms DNA	AEGH	ISO 17025 EN PROCESS	1390
Charcot - Marie - tooth 2J	607736	MPZ	whole gene	Sequencing	45 days	2 micrograms DNA	AEGH	ISO 17025 EN PROCESS	1390
Charcot - Marie - tooth disease type 1D	607678	EGR2	all coding exons	Sequencing	20 days	2 micrograms DNA		ISO 17025:2005 / EMQN	1100
Charcot - Marie - tooth disease type 4A	214400	GDAP1	all coding exons	Sequencing	20 days	2 micrograms DNA		ISO 17025:2005 / EMQN	700
Charcot - Marie - tooth disease type 4D	601455	NDRG1	Lom mutation	Sequencing	20 days	2 micrograms DNA		ISO 17025:2005 / EMQN	440
Chemokine receptor (CCR5)	601373	CMKBR5	deletion CCR5D32	PCR	1 month	2 micrograms DNA			210
Chloride channel 5 (CLCN5)	300008	CLCK2, K2, CLC5	Genomic Sequencing of the entire coding region	Genomic Sequencing of the entire coding region	2 - 4 weeks	2 micrograms DNA		DGKL,CAP	1440
Chronic Myelomonocytic Leukemia (CMML) , Essential Thrombocythemia, Hypereosinophilic syndrome, Myeloid metaplasia with myelofibrosis, Neutrophilic Leukemia (CNL) , Polycythemia vera, Systemic Mastocytosis, Myelodysplastic syndromes		JAK2	mutation V617F	4 - primer ARMS PCR	5 days	4 micrograms DNA		ISO 15189	175
Chronic progressive external ophthalmoplegia (CPEO)	590055	MTTL2	deletions		1 week	2 micrograms DNA			165
CMTX - GJB1 - all coding exons	302800	GJB1	all coding exons	Sequencing	20 days	2 micrograms DNA		ISO 17025:2005 / EMQN	550
Coffin Lowry syndrome	303600	RSK2	all coding exons	Sequencing	30 days	2 micrograms DNA		ISO 17025:2005 / EMQN	3250
Collagen type IV, Alpha 3 (COL4A3)	120070	COL4A3	Genomic Sequencing of the entire coding region	Genomic Sequencing of the entire coding region	2 - 4 weeks	2 micrograms DNA		DGKL,CAP	1750
Collagen type IV, Alpha 4 (COL4A4)	120131	COL4A4	Genomic Sequencing of the entire coding region	Genomic Sequencing of the entire coding region	2 - 4 weeks	2 micrograms DNA		DGKL,CAP	1750
Collagen type IV, Alpha 5 (COL4A5)	303630	COL4A5	Genomic Sequencing of the entire coding region	Genomic Sequencing of the entire coding region	2 - 4 weeks	2 micrograms DNA		DGKL,CAP	1750
Combined FV & FVIII Deficiency	227300	LMAN1 & MCFD2	Analysis for known mutations	usually PCR & Sequencing	10 days	2 micrograms DNA		CPA UK and UKHCDO	320
Combined FV & FVIII Deficiency	227300	LMAN1 & MCFD2	Full gene analysis	dHPLC & Sequencing	60 days	2 micrograms DNA		CPA UK and UKHCDO	1800
Complement factor H (CFH)	134370	HF1, HF, FHL1	Genomic Sequencing of the entire coding region	Genomic Sequencing of the entire coding region	2 - 4 weeks	2 micrograms DNA		DGKL,CAP	1980
COMT activity	116790	COMT	Val158Met	PCR - RFLP	1 week	2 micrograms DNA		CAP	190
Congenital adrenal hyperplasia	201910	CYP21	all coding exons	Sequencing (all coding exons) , SB	2 - 4 months	2 micrograms DNA		in preparation	800
Cornelia De Lange syndrome	122470	NIPBL	all coding exons	DHPLC	30 days	2 micrograms DNA		ISO 2001	790
Coronary disease - ACE - Insertion/ deletion	106180	ACE	Insertion/ deletion	PCR - ASO	3 days	2 micrograms DNA		CAP	350
Coronary spasm susceptibility	163729	ecNOS	788C/ T, 894 G/ T & intron 4 VNTR	PCR - ASO	2 weeks	2 micrograms DNA		CAP	80
Crouzon syndrome	123500	FGFR2	exons 8, 10	Sequencing (exons 8, 10)	2 - 4 months	2 micrograms DNA		in preparation	400
CYP27B1 (25 - hydroxyvitaminD3 1 - Alpha - hydroxylase gene)	264700	P450C1 - Alpha, CYP1, VDDR, PDDR, VDD1, CP2B, CYP27B, P450C1, VDDRI, VDDRII	Genomic Sequencing of the entire coding region	Genomic Sequencing of the entire coding region	2 - 4 weeks	2 micrograms DNA		DGKL, CAP	770
CYP2C19	124029	CYP2C19	CYP2C19*2, 3	PCR - RFLP	2 weeks	2 micrograms DNA		CAP	380
CYP3A5	605325	CYP3A5	CYP3A5*1, 2, 3	PCR - ASO	2 weeks	2 micrograms DNA		CAP	190
Cystathionine b - Synthase (CBS) gene	236200	CBS	Analysis for known mutations	usually PCR & Sequencing	10 days	2 micrograms DNA		CPA UK and UKHCDO	320
Cystathionine b - Synthase (CBS) gene	236200	CBS	Full gene analysis	dHPLC & Sequencing	40 days	2 micrograms DNA		CPA UK and UKHCDO	1600
Cystic fibrosis (33 mutations + poly T)	219700	CFTR/ ABCC7	33 common mutation + poly T: G85E; 394delTT; 621+1G?T; R117H; I148T; 711+1G?T; 1078delT; R347P; R347H; R334W; Polimorfismo Poly-T; A455E; DI507; DF508; 1717-1G?A; V520F; G542X; S549N; S549R; G551D; R553X; R560T; 1898+1 G?A; 2183AA?G; 2184delA; 2789 +5G?A; 3120+1 G?A ; R1162X; 3659delC; 3849+10KbC?T; 3876delA; W1282X; 3905insT; N1303K	PCR/ OLA; ARMS - PCR	7-10 days	2 micrograms DNA	CE marked kit, CF Consortium	ISO 17025 / EMQN, CF Consortium, SAS	155
Cystic fibrosis (CF and CBAVD)	602421	CFTR	246 positions	PCR and APEX	1 month	2 micrograms DNA	CF Network - 2004		390
Cystinuria gene (1SLC3A1)	104614	ATR1, D2H, RBAT, CSNU, CSNU1	Genomic Sequencing of the entire coding region	Genomic Sequencing of the entire coding region	2 - 4 weeks	2 micrograms DNA		DGKL,CAP	980
Cystinuria gene 2 (SLC7A9)	604144	CSNU3	Genomic Sequencing of the entire coding region	Genomic Sequencing of the entire coding region	2 - 4 weeks	2 micrograms DNA		DGKL,CAP	1290
Deafness Autosomal Dominant Nonsyndromic Sensorineural 9	601369	COCH	P51S		< 2 months	2 micrograms DNA		in preparation	400
Deafness neurosensory, autosomal dominant low frequencies	600965	WFS1	exon 8	Sequencing (exon 8)	< 2 months	2 micrograms DNA		in preparation	800
Deafness nonsyndromic (DFNB1) _(DFNA2)	220 290 600 101	GJB2, GJB3, GJB6, GJA1, SLC26A5, SLC26A4, mtDNA	201 mutations	PCR and APEX	1 month	2 micrograms DNA			390
Deafness, DFNA3	220290	GJB2	whole gene	Sequencing	45 days	2 micrograms DNA	AEGH	ISO 17025 EN PROCESS	990
Deafness, maternally inherited	520000	DNA MITOCHONDRIAL	A1555G	RFLP's	15 days	2 micrograms DNA	AEGH	ISO 17025 EN PROCESS	320
Dejernie - sottas (HMSNIII) , DSDA	145900	PMP22	whole gene	Sequencing	45 days	2 micrograms DNA	AEGH	ISO 17025 EN PROCESS	990
Dejernie - sottas (HMSNIII) , DSDB	145900	MPZ	whole gene	Sequencing	45 days	2 micrograms DNA	AEGH	ISO 17025 EN PROCESS	1390
Dentatorubro - pallidoluyisian atrophy (DRPLA)	125370	DRPLA	REPEAT	Fragments analysis	30 days	2 micrograms DNA	AEGH	ISO 17025 EN PROCESS	540
Denys - Drash syndrome	#194080	WT1	C360G R362X R366H H373Q H377Y R394W R394P D396G D396N	DNA extraction + amplification + sequence	20 days	2 micrograms DNA			320
Detection of high - risk types of HPVs in cervical cells	603956	HPV		DNA - Microarrays	1 week	2 micrograms DNA		CAP	180
DFNB1	121011	OGJB2	all coding sequence	polymerase chain reaction sequence analysis restriction enzyme detection	15days	4 micrograms DNA		UNI EN ISO 9001 - CERMET / EMNQ, Istituto Superiore Sanità	775
Di George syndrome, velocardiofacial syndrome	188400, 192430			fluorescent PCR	prenatal: 2 weeks; postnatal: 4 weeks	2 micrograms DNA			1 person postnatal 250 - 3 persons postnatal 380 - only fetus 350 - fetus+parents 460
Di George, syndrome	188400	REGION 22q11.2	deletion	MLPA	30 days	2 micrograms DNA	AEGH	ISO 17025 EN PROCESS	540
Dihydropyrimidine Dehydrogenase Deficiency (5 - Fluoro - Uracil Pharmacogenetics)	274270	DPYD	*2A (IVS14+ 1G>A)	TaqMan	3 - 5 days		Medical University Graz	EMQN, ÖQUASTA , DGKL , INSTAND	90
DNA repair		NAT1, NAT2, CYP2D6, CYP1B1, CYP1A1, CYP1A2, ATM, BRCA1, BRCA2, p16, CDKN1a, CDKN2A, etc..(106 genes)	228 mutations	PCR and APEX	1 month	13 micrograms DNA		ISO 9001:2000	390
Duchenne Muscular Dystrophy (DMD)	300 376 310 200	Dystrophin	exon 3, 4, 6, 8, 12, 13, 16, 17, 19, 32, 34, 41, 42, 43, 44, 45, 47, 48, 49, 50, 51, 52, 60, pb pm	Multiplex PCR	1 month	2 micrograms DNA	EMQN - 2005		410
Dysautonomia	223900	IKBKAP	2507+ 6 T>C		< 2 months	2 micrograms DNA		in preparation	400
Dystonia, progressive with diurnal variation	128230	DYT5	all coding exons	Sequencing (all coding exons)	2 - 4 months	2 micrograms DNA		in preparation	800
Early - onset nephrotis syndrome Sclerosis mesangial diffuse	#256370	WT1	H377Y F383L D396N	DNA extraction + amplification + sequence	20 days	2 micrograms DNA			320
Ehlers Danlos type IV, vascular type	130050	COL3A1	all coding exons	Sequencing	30 days	2 micrograms DNA		ISO 17025:2005 / EMQN	2500
Epidermolysis bullosa dystrophica dominant	131750	COL7A		Sequencing	3 months	2 micrograms DNA			4300
Epidermolysis bullosa dystrophica recessive	226600	COL7A1	whole gene	Sequencing	3 months	2 micrograms DNA			4300
Epidermolysis bullosa dystrophica with subcorneal cleavage	607600	COL7A1	whole gene	Sequencing	3 months	2 micrograms DNA			4300
Epidermolysis bullosa pretibial	131850	COL7A1	whole gene	Sequencing	3 months	2 micrograms DNA			4300
Epidermolysis bullosa pruriginosa, autosomal dominant and recessive	604129	COL7A1	whole gene	Sequencing	3 months	2 micrograms DNA			4300
Epidermolysis bullosa with congenital localized absence of skin and deformity of nails	132000	COL7A1	whole gene	Sequencing	3 months	2 micrograms DNA			4300
Epithelial sodium channel, beta subunit (SCNN1B)	600760	SCNEB	Genomic Sequencing of the entire coding region	Genomic Sequencing of the entire coding region	2 - 4 weeks	2 micrograms DNA		DGKL,CAP	1290
Epithelial sodium channel, gamma subunit (SCNN1G)	600761	SCNEG	Genomic Sequencing of the entire coding region	Genomic Sequencing of the entire coding region	2 - 4 weeks	2 micrograms DNA		DGKL,CAP	1290
ERCC1	*126380	ERCC1	Asn118Asn	Sequencing	1 week	2 micrograms DNA			110
ERCC2_XPD - Asp312Asn	#278730	ERCC2/ XPD	Asp312Asn	Sequencing	1 week	2 micrograms DNA			110
ERCC2_XPD - Lys751Gln	#278730	ERCC2/ XPD	Lys751Gln	Sequencing	1 week	2 micrograms DNA			110
Exostoses Multiple type I	133700	EXT1	all coding exons	Sequencing	30 days	2 micrograms DNA		ISO 17025:2005 / EMQN	2400
Exostoses Multiple type II	133700	EXT2	all coding exons	Sequencing	30 days	2 micrograms DNA		ISO 17025:2005 / EMQN	2600
Factor V Deficiency	227400	F5	Analysis for known mutations	usually PCR & Sequencing	10 days	2 micrograms DNA		CPA UK and UKHCDO	320
Factor V Deficiency	227400	F5	Full gene analysis	dHPLC & Sequencing	40 days	2 micrograms DNA		CPA UK and UKHCDO	2800
Factor VII Deficiency	227500	F7	Analysis for known mutations	usually PCR & Sequencing	10 days	2 micrograms DNA		CPA UK and UKHCDO	320
Factor VII Deficiency	227500	F7	Full gene analysis	dHPLC & Sequencing	30 days	2 micrograms DNA		CPA UK and UKHCDO	1100
Factor X Deficiency	227600	F10	Analysis for known mutations	usually PCR & Sequencing	10 days	2 micrograms DNA		CPA UK and UKHCDO	320
Factor X Deficiency	227600	F10	Full gene analysis	dHPLC & Sequencing	30 days	2 micrograms DNA		CPA UK and UKHCDO	1100
Factor XI Deficiency	264900	F11	Analysis for known mutations	usually PCR & Sequencing	10 days	2 micrograms DNA		CPA UK and UKHCDO	320
Factor XI Deficiency		F11	Ashkenazi Jewish type II & type III mutations	PCR & Sequencing	20 days	2 micrograms DNA			430
Factor XI Deficiency	264900	F11	Full gene analysis	dHPLC & Sequencing	30 days	2 micrograms DNA		CPA UK and UKHCDO	980
Factor XII	134570	F12	C46CT		20 days	2 micrograms DNA	AEGH	ISO 17025 EN PROCESS	290
Familial adenomatous polyposis coli, MYH, MUTYH associated Polyposis (MAP)	*604933	MUTYH	Sequencing	Sequencing		2 micrograms DNA			1330
Familial dysautonomia	223900	IKBKAP	2507+ 6 T>C	RFLP	3 weeks	5 micrograms DNA	NYS-DOH	CLIA NYS-DOH CAP	1-20 samples a month 135; 21-100 samples a month 115; over 100 samples a month 95
Familial gastric cancer diffuse	192090	CDH1	all coding exons	Sequencing	30 days	2 micrograms DNA		ISO 17025:2005 / EMQN	6500
Familial Hypercholesterolemia	114010	LDL + ApoB	208 MUTATION + Sequencing+ REARRANGEMENTS	Microarrays+ Sequencing	2 months	2 micrograms DNA	AEGH	ISO 17025 EN PROCESS	1900
Familial Hypercholesterolemia (Apolipoprotein E isoforms)	107741	APOE	e2/ e3/ e4 subtypes	TaqMan	3 - 5 days	2 micrograms DNA	ÖQUASTA , DGKL	EMQN, ÖQUASTA , DGKL , INSTAND	90
Familial Hypercholesterolemia (Defective Apolipoprotein B)	144010	APOB	R3500Q	TaqMan	3 - 5 days	2 micrograms DNA	ÖQUASTA, DGKL	EMQN, ÖQUASTA , DGKL , INSTAND	100
Familial hyperinsulinism	256450	ABCC8	IVS32-9G>A, deltaF1388	RFLP	3 weeks	5 micrograms DNA	NYS-DOH	CLIA NYS-DOH CAP	1-20 samples a month 135; 21-100 samples a month 115; over 100 samples a month 95
Familial malignant melanoma	155601	p16 (CDKN2A)	whole gene	Sequencing	20-30 days	2 micrograms DNA			440
Familial meditarranean fever	608107	MEFV	E148Q	RFLP's	20 days	2 micrograms DNA	AEGH	ISO 17025 EN PROCESS	290
Familial meditarranean fever	608107	MEFV	exon 10	Sequencing	30 days	2 micrograms DNA	AEGH	ISO 17025 EN PROCESS	390
Familial Mediteranean Fever (MEFV)	249100	(MEFV)	whole gene	Sequencing	20 days	2 micrograms DNA			450
Familial Mediterranean Fever	249100	MEFV	10 mutations M680I, V726A, M694V, M694I, K695R, A744S, R761H, 692delI, A653H y A408G	Sequencing	20 days	2 micrograms DNA		ISO 17025:2005 / EMQN	440
Familial mediterranean fever Recurrent polyserositis Familial paroxismal polyserositis	#249100	MEFV	E148Q E148V E163A E319K I591T M694V E319K I591T M694V	DNA extraction + amplification + sequence	20 days	2 micrograms DNA			320
Familial spastic paraplegia type I		L1CAM		DNA extraction + amplification + sequence	30 days	2 micrograms DNA			580
Familial spastic paraplegia type II SPG2, SPPX2	#312920	PLP1 (lipophilin)	H139Y S169F F236S I186T	DNA extraction + amplification + sequence	30 days	2 micrograms DNA			580
Familial spastic paraplegia type III SPG3 Strumpell Disease	#182600	SPG3A (atlastin)	R217Q R239C	DNA extraction + amplification + sequence	2 months	2 micrograms DNA			580
Familial spastic paraplegia type IV SPG4	#182601	SPG4 (spastin)	S44L P45Q K299X 344K S362C N386S D441G C448Y D470V T1520del R499C AÆG nt 1620 Expansion (CAG) n R562E A578ins GÆC 1853+ 1IVS 9+ 4 AÆG 1 bp ins	DNA extraction + amplification + sequence	5 months	2 micrograms DNA			2400
Familial spastic paraplegia type VI SPG6	#600363	NIPA1	T45R	DNA extraction + amplification + sequence	30 days	2 micrograms DNA			250
Familial spastic paraplegia type VII SPG7	#607259	SPG7 (paraplegin)	784 del 2 bp A2228del 9,5 Kb del	DNA extraction + amplification + sequence	30 days	2 micrograms DNA			400
Familial spastic paraplegia type X SPG10	#604187	KIF5A	N256S R280C	DNA extraction + amplification + sequence	30 days	2 micrograms DNA			275
Familial spastic paraplegia type XIII SPG13	#605280	HSP60 (chaperonin)	V72I	DNA extraction + amplification + sequence	30 days	2 micrograms DNA			275
Familial spastic paraplegia type XVII SPG17 Silver syndrome	#270685	BSCL2 (seipin)	N88S S90L	DNA extraction + amplification + sequence	30 days	2 micrograms DNA			275
Familial spastic paraplegia type XXI SPG21		ACP33 (maspardin)	A601ins	DNA extraction + amplification + sequence	30 days	2 micrograms DNA			275
Fanconi anemia complementation group C	227645	FACC	IVS4+ 4A>T	ASO	3 weeks	5 micrograms DNA	NYS-DOH	CLIA NYS-DOH CAP	1-20 samples a month 135; 21-100 samples a month 115; over 100 samples a month 95
Fibrinogenaemia (Dys - , Hypo - and A)	202400	FGA, FGB & FGG	Analysis for known mutations	usually PCR & Sequencing	10 days	2 micrograms DNA		CPA UK and UKHCDO	320
Fibrinogenaemia (Dys - , Hypo - and A)	202400	FGA, FGB & FGG	Full gene analysis	dHPLC & Sequencing	60 days	2 micrograms DNA		CPA UK and UKHCDO	3400
Follicular Lymphoma		BCL2/ JH t(14; 18) translocation		PCR	5 days	4 micrograms DNA		ISO 15189	290
Fragile site rare (FRAXE)	309548	FMR - 2	repeats		2 weeks	2 micrograms DNA			170
Frasier syndrome	#136680	WT1	R390X F392L	DNA extraction + amplification + sequence	20 days	2 micrograms DNA			320
Galactosemia	#230400	GALT	(all coding sequence)	polymerase chain reaction sequence analysis restriction enzyme detection	7 - 10days	4 micrograms DNA		UNI EN ISO 9001 - CERMET / EMNQ, Istituto Superiore Sanità	770
Galactosemia	230400	GALT	mutation Q188R	PCR and RFLP	1 month	2 micrograms DNA			210
Gaucher Disease	230800	GBA	R496H, N370S, 84GG, L444P, IVS2+1	ASO	3 weeks	5 micrograms DNA	NYS-DOH	CLIA NYS-DOH CAP	1-20 samples a month 135; 21-100 samples a month 115; over 100 samples a month 95
Gaucher Disease (GBA)	230800	GBA	whole gene	Sequencing	7-10 days	2 micrograms DNA			850
Gefitinib resistance	*131550	EGFR	exon 18 - 21	TGCE	3 weeks	2 micrograms DNA			300
Gene of autosomal recessive hypercholesterolemia (LDLRAP1)	605747	ARH, ARH1, ARH2, FHCB1, FHCB2, MGC34705	Genomic Sequencing of the entire coding region	Genomic Sequencing of the entire coding region	2 - 4 weeks	2 micrograms DNA		DGKL,CAP	980
Glanzmann Thrombasthenia	273800	ITGA2B & ITGB3	Analysis for known mutations	usually PCR & Sequencing	10 days	2 micrograms DNA		CPA UK and UKHCDO	320
Glanzmann Thrombasthenia	273800	ITGA2B & ITGB3	Full gene analysis	dHPLC & Sequencing	60 days	2 micrograms DNA		CPA UK and UKHCDO	2200
Glaucoma congenital	231300	CYP1B1	all coding exons	Sequencing (all coding exons)	2 months	2 micrograms DNA		in preparation	800
Glucokinase (GCK)	138079	GK, GLK, HK4	Genomic Sequencing of the entire coding region	Genomic Sequencing of the entire coding region	2 - 4 weeks	2 micrograms DNA		DGKL,CAP	1100
Glutathion - S - transferase M1	138350	GSTM1	deletion		1 week	2 micrograms DNA			195
Glutathion - S - transferase T1	600436	GSTT1	deletion		1 week	2 micrograms DNA			195
Glycogen storage disease, type 1a	232200	GSD1A	R83C	RFLP	3 weeks	5 micrograms DNA	NYS-DOH	CLIA NYS-DOH CAP	1-20 samples a month 135; 21-100 samples a month 115; over 100 samples a month 95
GNAS complex locus (GNAS1)	139320	GNAS, NESP55, GS, XLAS, ALEX	Genomic Sequencing of the entire coding region	Genomic Sequencing of the entire coding region	2 - 4 weeks	2 micrograms DNA		DGKL,CAP	1500
Goldmann - Favre syndrome	268100	NR2E3	all coding exons	Sequencing (all coding exons)	2 - 4 months	2 micrograms DNA		in preparation	800
gonadal dysgenesis, XY female type; GDXY	306100	SRY	all coding exons	Sequencing	30 days	2 micrograms DNA		ISO 17025:2005 / EMQN	990
gonadal dysgenesis, XY female type; GDXY	306100	SRY	presence/ absence	PCR	20 days	2 micrograms DNA		ISO 17025:2005 / EMQN	440
Gorlin - Goltz syndrome	109400	PTCH	all coding exons	Sequencing	30 days	2 micrograms DNA		ISO 17025:2005 / EMQN	2700
Growth hormone 1(GH1)	139250	GH, GHN, GHD	Genomic Sequencing of the entire coding region	Genomic Sequencing of the entire coding region	2 - 4 weeks	2 micrograms DNA		DGKL,CAP	490
Haemophilia		F8	Analysis for known mutations	usually PCR & Sequencing	10 days	2 micrograms DNA	UK NEQAS Haemophilia Genetics		320
Haemophilia		F8	IVS 22 & IVS 1 Inversions	Direct detection by PCR	20 days	2 micrograms DNA	UK NEQAS Haemophilia Genetics		430
Haemophilia A	306700	F8	Full gene analysis	dHPLC & Sequencing	40 days	2 micrograms DNA	UK NEQAS Haemophilia Genetics	CPA UK and UKHCDO	1280
Haemophilia A	306700	F8	Analysis for known mutations	usually PCR & Sequencing	10 days	2 micrograms DNA	UK NEQAS Haemophilia Genetics	CPA UK and UKHCDO	320
Haemophilia B	306900	F9	Analysis for known mutations	usually PCR & Sequencing	10 days	2 micrograms DNA	UK NEQAS Haemophilia Genetics	CPA UK and UKHCDO	320
Haemophilia B	306900	F9	Full gene analysis	dHPLC & Sequencing	20 days	2 micrograms DNA	UK NEQAS Haemophilia Genetics	CPA UK and UKHCDO	880
Heart block Familial	113900	SCN5A	Mutation hotspots	Sequencing		2 micrograms DNA	ISO 17025	ISO 17025	3500
Hemochromatosis - C282 Y, H63D	235200	HFE	C282 Y, H63D	PCR, RFLP, 3% agarose gel, TBE	2 weeks	2 micrograms DNA	Internal quality control	ISO 15189	80
Hemochromatosis - C282Y, H63D, S65C	235200	HFE	C282Y; H63D; S65C	PCR - RFLP	1 week	2 micrograms DNA		CAP	190
Hemochromatosis - HFE Sequencing	235200	HFE	all coding exons	Sequencing	30 days	2 micrograms DNA	EMQN 2005	ISO 17025:2005 / EMQN	1100
Hemoglobin beta locus - HBB - Total gene Sequencing	141900	HBB	total gene	Sequencing	4 weeks	2 micrograms DNA			1900
Hemophila B ( IX FACTOR)	306900	IX FACTOR	whole gene	Sequencing	20 days	2 micrograms DNA			575
Hemophilia A - FVIII	306700	FVIII	all coding exons	Sequencing	30 days	2 micrograms DNA		ISO 17025:2005 / EMQN	2200
Hemophilia A ( VIII FACTOR)	306700	VIII FACTOR	whole gene	Sequencing	30 days	2 micrograms DNA			675
Hemophilia B - FIX	306900	FIX	all coding exons	Sequencing	30 days	2 micrograms DNA		ISO 17025:2005 / EMQN	1100
Hereditary Fructose Intolerance	229600	ALDOB	A149P, A174D, N334K	TaqMan	3 - 5 days			EMQN, ÖQUASTA , DGKL , INSTAND	150
Hereditary Fructose Intolerance	229600	ALDOB	all exons and exon - intron boundaries	Sequencing of all exons and exon - intron boundaries	3 - 4 weeks			EMQN, ÖQUASTA , DGKL , INSTAND	1100
Hereditary liability to pressure palsy (HNPP)	159440	MPZ	all coding exons	Sequencing	20 days	2 micrograms DNA		ISO 17025:2005 / EMQN	540
Hereditary Non Polyposis Colon Cancer (HNPCC) - MLH1	120436	MLH1	whole gene	Sequencing + MLPA	20-30 days	2 micrograms DNA			650
Hereditary Non Polyposis Colon Cancer (HNPCC) - MLH1, MSH2, MSH6	114400	MSH2, MLH1 and MSH6 full genes screening	TGCE (Temperature Gradient Capillary Electrophoresis; Transgenomics Inc.) + analysis of all exons and exons - introns boundaries with bidirectional sequencing of all variant profiles + MLPA (Multiplex Ligation-dependent Probe Amplification; MRC Holland) for major deletions or insertions.		2 months	2 micrograms DNA	EMQN	EMQN	1200 Euro for 0 - 10 samples per month; 1150 Euro for 11 to 100 samples per month; 950 Euro for 101 samples per month and above
Hereditary Non Polyposis Colon Cancer (HNPCC) - MSH2	120435	MSH2	whole gene	Sequencing + MLPA	20-30 days	2 micrograms DNA			650
Hereditary Non Polyposis Colon Cancer (HNPCC) - PMS2	*120435	PMS2	Sequencing	Sequencing		2 micrograms DNA			1280
Hereditary progressive dystonia	128230	GTP - CHI	point mutation	PCR - SSCP - DNA	3 weeks	2 micrograms DNA		CAP	490
Homocystinuria	603174	CBS	exon 4, exon 8	Sequencing (exon 4, exon 8)	< 2 months	2 micrograms DNA		in preparation	400
HYDROXYLASE 21 - Deficiency	201910	(CYP21A2)	P30L Exon 1 - C -> T nucleotidic position 89; Pro ® Leu codon ; level 30 / A/C-655 ->G Intron 2 A/C -> G nucleotidic position 655 / N172I Exon 4 -T -> A nucleotidic position 999;Asn -> Ile codon level 172 / V281L Exon 7 G -> T nucleotidic position 1683; Val -> Leu codon level 281 / Q318X -Exon 8 C -> T nucleotidic position 1993;Gln ->Stop a codon level 318 / W356R Exon 8 C -> T nucleotidic position 2108; Trp -> Arg codon level 356.	C -> T nucleotidic position 2108; Trp -> Arg codon level 356.	15 days	2 micrograms DNA			345
Hypercholesterolemia	#143890	LDLR	D245E	TGCE	2 weeks	2 micrograms DNA			110
Hypertrophic Cardiomyopathy Familial	192600	ACTC, MYL2, MYL3, MYH7, MYBPC3, TNNT2, TNNI3, TPM1	106 Exons	Sequencing		10 micrograms DNA	CLIA	CLIA	3000
Hypobetalipoproteinemia Familial	107730	APOB	whole gene	Sequencing	3 months	2 micrograms DNA	ISO 17025	ISO 17025	4800
Hypochondroplasia	146000	FGFR3	Sequencing	Sequencing		2 micrograms DNA			2100
Hypochondroplasia - R3500Q, R3531C	146000	FGFR3	R3500Q and R3531C	Sequencing	20 days	2 micrograms DNA		ISO 17025:2005 / EMQN	395
I factor (CFI )	217030	IF, FI, KAF, C3B - IN	Genomic Sequencing of the entire coding region	Genomic Sequencing of the entire coding region	2 - 4 weeks	2 micrograms DNA		DGKL,CAP	1100
Ichthyosis congenita harlequin fetus type	242500	ABCA12	whole gene	Sequencing	4 months	2 micrograms DNA	CLIA	CLIA	5700
Ichthyosis, X linked	308100	Xp22.32	deletions	MLPA	25 days	2 micrograms DNA	AEGH	ISO 17025 EN PROCESS	440
Inclusion body myopathy	600737	GNE	all coding exons	Sequencing (all coding exons)	2 - 4 months	2 micrograms DNA		in preparation	800
Incontinentia Pigmenti - Chromosome X inactivation	308300	IKBKG	Chromosome X inactivation		20 days	2 micrograms DNA		ISO 17025:2005 / EMQN	395
Incontinentia Pigmenti - deletion exons 4 - 10	308300	IKBKG	deletion exons 4 - 10	PCR	20 days	2 micrograms DNA		ISO 17025:2005 / EMQN	395
Infantile Epilepsy, CDKL5	600185	CDKL5		PCR		2 micrograms DNA			980
Infantile spasm syndrome X - linked	308350	ARX	429 - 452dup en (GCG) 10+ 7 insertion		< 2 months	2 micrograms DNA		in preparation	400
Jackson - Weiss syndrome	#123150	FGFR2	A344G	DNA extraction + amplification + sequence	20 days	2 micrograms DNA			240
k - ras activation	#260350, #114500, #211980	KRAS2	codons 12, 13	TGCE	2 weeks	2 micrograms DNA			110
Kearns - Sayre syndrome	530000	POLG1, Twinkle, ANT1				2 micrograms muscle DNA			290
Kostmann disease, Severe Congenital Neutropenia	202700	ELA2	all coding exons	Sequencing	30 days	2 micrograms DNA		ISO 17025:2005 / EMQN	990
Lactose Intolerance (adult type hypolactasia)	223100	LCT	- 13910T>C	TaqMan	3 - 5 days		INSTAND	EMQN, ÖQUASTA , DGKL , INSTAND	90
LCHAD deficiency	609016	HADHA	mutation G1528C	PCR and RFLP	1 month	2 micrograms DNA			210
Leber congenital amaurosis (LCA1)	204000	CRB1, AIPL1, GUCY2D, CRX, RPE65, RPGRIP1, MERTK, LRAT	344 positions	PCR and APEX	1 month	2 micrograms DNA			390
Leber optic atrophia - G11778A	516000	MTND1	G11778A		1 week	2 micrograms DNA			280
Leber optic atrophy	535000	mtDNA	11778 G>A, 3460 G>A, 14484 T>C, 15257 A>G		< 2 months	2 micrograms DNA		in preparation	400
Leigh mitoncondrial syndrome	516060	MTATP6	8993T>G y 8993TàC	Sequencing	20 days	2 micrograms DNA		ISO 17025:2005 / EMQN	290
Leopard syndrome	151100	PTPN11	mutation screening of exons 2,3,4,7,8,12,13	CSGE + Sequencing	30 - 40 days	5 micrograms DNA		EMQN	890
Li - Fraumeni - Syndrom	*151623	p53	whole gene	Sequencing	20-30 days	2 micrograms DNA			440
Lipoprotein lipase (LPL)	238600	LIPD, FCHL	Genomic Sequencing of the entire coding region	Genomic Sequencing of the entire coding region	2 - 4 weeks	2 micrograms DNA		DGKL,CAP	1100
Long QT syndrome 3 (LQT3)	603830	SCN5A	Mutation hotspots	Sequencing		2 micrograms DNA	ISO 17025	ISO 17025	3500
Low density lipoprotein receptor LDLR	143890	LOW DENSITY LIPOPROTEIN RECEPTOR	Genomic Sequencing of the entire coding region	Genomic Sequencing of the entire coding region	2 - 4 weeks	2 micrograms DNA		DGKL,CAP	1880
Lowe syndrome	309000	OCRL1	all coding exons	Sequencing	30 days	2 micrograms DNA		ISO 17025:2005 / EMQN	3250
Lymphoma, Acute leukemia		IgH gene rearrangement(VH - FR1 - 3 and DH1 - 7 to JH genes)		multiplex PCR	10 days	4 micrograms DNA		ISO 15189	400
Lymphoma, Acute leukemia		TCR gamma (T cell receptor gamma) gene rearrangement (V?1 - 11genes to all J? exons: J?1.1/ 2.1 and J?1.3/ 2.3)		multiplex PCR	10 days	4 micrograms DNA		ISO 15189	400
Machado - Joseph Disease	109150	ATX3	(repeat)	PCR	< 2 months	2 micrograms DNA	EMQN	in preparation	400
Male Infertility (Oligospermia - Azoospermia, Sertoli - cell - only syndrome) )	415000	AZFa AZFb AZFc (including DAZ and KALY)	microdeletions	multiplex PCR	5 days	2 micrograms DNA			350
Male Infertility (Oligospermia - Azoospermia, Sertoli - cell - only syndrome) )	415000	AZFa, AZFb, AZFc	microdeletions	multiplex PCR	5 days	3 micrograms DNA		ISO 15189	175
Maple syrup urine disease	248611	BCKDHB	R183P	RFLP	3 weeks	5 micrograms DNA	NYS-DOH	CLIA NYS-DOH CAP	1-20 samples a month 135; 21-100 samples a month 115; over 100 samples a month 95
Marfan type 1 syndrome	154700	FBN1	Exons 13, 15, 21, 23, 24, 25, 26, 27, 28, 43, 44, 55, 62, 63 and 65	Sequencing	30 days	2 micrograms DNA		ISO 17025:2005 / EMQN	2600
Marfan type 1 syndrome - all coding exons	154700	FBN1	all coding exons	Sequencing	30 days	2 micrograms DNA		ISO 17025:2005 / EMQN	8800
Marfan type 2 syndrome	154705	TGFBR2	all coding exons	Sequencing	30 days	2 micrograms DNA		ISO 17025:2005 / EMQN	1200
Marshall syndrome	154780	COL11A1	whole gene	Sequencing	8 months	10 micrograms DNA			4000
May - Hegglin anomaly	155100	MYH9	Analysis for known mutations	usually PCR & Sequencing	10 days	2 micrograms DNA		CPA UK and UKHCDO	320
May - Hegglin anomaly		MYH9	Analysis for known mutations	usually PCR & Sequencing	10 days	2 micrograms DNA			320
May - Hegglin anomaly	155100	MYH9	Full gene analysis	dHPLC & Sequencing	40 days	2 micrograms DNA		CPA UK and UKHCDO	4300
May - Hegglin anomaly		MYH9	Targeted analysis - exons 25, 38 & 40	PCR & Sequencing	20 days	2 micrograms DNA			750
Medullary thyroid carcinoma	155240	RET	Sequencing (exons 10, 11, 12, 13, 14, 16)	Sequencing (exons 10, 11, 12, 13, 14, 16)	2 - 4 months	2 micrograms DNA		in preparation	800
MELAS - Mitochondrial myopathy encephalopathy lactic acidosis and strokelike episodes	540000	MTTL1	all coding exons (3243A>G, 3271T>C y 3252A>G )	Sequencing	20 days	2 micrograms DNA		ISO 17025:2005 / EMQN	395
Membrane cofactor protein (MCP)	120920	CD46, MIC10, TLX, MGC26544, TRA2.10	Genomic Sequencing of the entire coding region	Genomic Sequencing of the entire coding region	2 - 4 weeks	2 micrograms DNA		DGKL,CAP	1250
Mental retardation 1		SWH, SCC, SLG, SW, SRT, SD, SK*	deletions / DUPLICATIONS	MLPA	30 days	2 micrograms DNA	AEGH	ISO 17025 EN PROCESS	440
Mental retardation 2		DIGEORGE, SOTOS , KABUKI, ALAGILLE,	deletions / DUPLICATIONS	MLPA	30 days	2 micrograms DNA	AEGH	ISO 17025 EN PROCESS	440
Mental retardation nonspecific (X-linked) MRX - Panel		ARX, PQBP1, JARID1C, TM4SF2, FACL4, DLG3, FTSJ1 , ZNF41		Sequencing	4 months	2 micrograms DNA	CLIA	CLIA	4000
Mental retardation X-linked		X CHROMOSOME	deletions / DUPLICATIONS	MLPA	30 days	2 micrograms DNA	AEGH	ISO 17025 EN PROCESS	440
Mental retardation, congenital anomalies			Identification of submicroscopic gains and losses up to 3Mbp in cases with normal karyotype	High Resolution Metaphase Comparative Genome Hybridization (HR - CGH)	15 days	10 micrograms DNA		ISO 15189	460
MERRF - Myoclonic epilepsy associated with ragged - red fibers	545000	MTTK	8344A>G, 8356T>C y 8363G>A	Sequencing	20 days	2 micrograms DNA		ISO 17025:2005 / EMQN	395
Mineralocorticoid receptor (NR3C2)	600983	MLR, HMR, MCR, MR	Genomic Sequencing of the entire coding region	Genomic Sequencing of the entire coding region	2 - 4 weeks	2 micrograms DNA		DGKL,CAP	1450
Mitochondrial Panel 1 and Panel 2 : MELAS; MERRF; NARP; Cardiomyopathy & deafness; Diabetes & deafness; Leigh syndrome + MNGIE (multiple mtDNA deletions); Ocular and skeletal myopathy	516060, 520000, 530000, 540000, 545000, 551500, 590060	mtDNA	point mutations (A3243G, T3271C, A8344G, G8363A, T8993C, T8993G, T9176C, G13513A, T14709C), deletions	PCR and ASO and/or RFLP and Southern blot hybridization	2-3 weeks	20 micrograms DNA (blood or muscle), muscle biopsy: 50 mg frozen		CLIA	1125; more than 25 samples a month 1025
Mitochondrial Panel 1 and Panel 2 expanded : MELAS; MERRF; NARP; Diabetes & deafness; Cardiomyopathy & deafness; Leigh syndrome + MNGIE (multiple mtDNA deletions); Ocular and skeletal myopathy; + KSS; Pearson's marrow - pancreas syndrome; PEO	516060, 520000, 530000, 540000, 545000, 551500, 557000, 590060	mtDNA	point mutations (A3243G, T3271C, A8344G, G8363A, T8993C, T8993G, T9176C, G13513A, T14709C), deletions, duplications	PCR and ASO and/or RFLP and Southern blot hybridization	2-3 weeks	20 micrograms DNA (blood or muscle), muscle biopsy: 50 mg frozen		CLIA	1250; more than 25 samples a month 1150
Mitochondrial Panel 1 or 2 further investigations: MtDNA mutation quantitation		mtDNA	quantitate a single mtDNA Panel 1 point mutation or Panel 2 RFLP in additional family member	PCR and ASO and/or RFLP	2-3 weeks	2 micrograms DNA		CLIA	345; more than 25 samples a month 300
Mitochondrial Panel 2 expanded : MNGIE (multiple mtDNA deletions); Ocular and skeletal myopathy + KSS; Pearson's marrow - pancreas syndrome; PEO	530000, 557000	mtDNA	deletions, duplications	Southern blot hybridization	2-3 weeks	20 micrograms DNA (blood or muscle), muscle biopsy: 50 mg frozen		CLIA	625; more than 25 samples a month 575
Mitochondrial Panel 2 further investigations : Special sequencing		mtDNA	sequencing a limited region to identify change detected in Mitochondrial DNA Panel 2	Sequencing and PCR and RFLP	2-3 weeks	2 micrograms DNA		CLIA	345; more than 25 samples a month 300
Mitochondrial encephalopathy, lactic acidosis, stroke - like episodes,MELAS	535000	mtDNA tRNA Leu				2 micrograms muscle DNA			290
Mitochondrial Panel 1 : MELAS; MERRF; NARP; Diabetes & deafness; Cardiomyopathy & deafness; Leigh syndrome	516060, 520000, 540000, 545000, 551500, 590060	MTTL1, MTTE, MTTK, MTATP6, MTND5	A3243G, T3271C, A8344G, G8363A, T8993C, T8993G, T9176C, G13513A, T14709C	PCR and ASO and/or RFLP	2-3 weeks	2 micrograms DNA (blood or muscle), muscle biopsy: 50 mg frozen		CLIA	725; more than 25 samples a month 675
Mitochondrial Panel 2 : MNGIE (multiple mtDNA deletions); Ocular and skeletal myopathy	530000	mtDNA	deletions	Southern blot hybridization	2-3 weeks	20 micrograms DNA (blood or muscle), muscle biopsy: 50 mg frozen		CLIA	495; more than 25 samples a month 450
MLH1 Sequencing + MLPA	114500	MLH1	whole gene	Sequencing + MLPA	6 weeks	2 micrograms DNA	ISO 15189	ISO 15189	950
MODY1 - Maturity Onset Diabetes of the Young, type 1	125850	HNF4	all coding exons	Sequencing	30 days	2 micrograms DNA	EMQN 2006	ISO 17025:2005 / EMQN	1300
MODY2 - Maturity Onset Diabetes of the Young, type 2	125851	GCK	all coding exons	Sequencing	30 days	2 micrograms DNA	EMQN 2006	ISO 17025:2005 / EMQN	1300
MODY3 - Maturity Onset Diabetes of the Young, type 3	600496	TCF1	all coding exons	Sequencing	30 days	2 micrograms DNA	EMQN 2006	ISO 17025:2005 / EMQN	1300
Monilethrix	158000	KRTHB1+ KRTHB6	all coding exons	Sequencing	30 days	2 micrograms DNA		ISO 17025:2005 / EMQN	5450
Morbus Gilbert	143500	UGT1A1	UGT1A1 6/ 7TA	PCR, 12% PAGE, ETB	3 weeks	2 micrograms DNA	DGKL (BRD) , ÚHKT (Prague - CZ)	ISO 15189	110
Morning - Glory syndrome		PAX6	P68S	DNA extraction + amplification + sequence	20 days	2 micrograms DNA			275
MSH6 Sequencing + MLPA	600678	MSH6	whole gene	Sequencing + MLPA	6 weeks	2 micrograms DNA	ISO 15189	ISO 15189	880
MTHFR - A 1298C	*607093	MTHFR	A 1298C	RT - PCR on Rotor - Gene 3000 (Corbett Reaserch) , CE kits (allelic discrimination)	2 weeks	2 micrograms DNA	CSN EN ISO 15189 / ÚHKT (Prague - CZ)	ISO 15189	55
Mucolipidosis type 4	252650	MCOLN1	IVS3-2A>3, 511del6434	RFLP	3 weeks	5 micrograms DNA	NYS-DOH	CLIA NYS-DOH CAP	1-20 samples a month 135; 21-100 samples a month 115; over 100 samples a month 95
Muenke syndrome	#602849	FGFR3	P250R	DNA extraction + amplification + sequence	20 days	2 micrograms DNA			240
Multiple drug resistance	*171050	MDR1	C3435T	Sequencing	1 week	2 micrograms DNA			110
Multiple Endocrine Neoplasia	131100	RET	T918C	RFLP's	30 days	2 micrograms DNA	AEGH	ISO 17025 EN PROCESS	290
Multiple Endocrine Neoplasia	131100	RET	C634A	RFLP's	30 days	2 micrograms DNA	AEGH	ISO 17025 EN PROCESS	290
Multiple Endocrine Neoplasia	131100	RET	EXONS 10 AND 11	Sequencing	30 days	2 micrograms DNA	AEGH	ISO 17025 EN PROCESS	4900
Multiple Endocrine Neoplasia	131100	RET	EXONS 13,14,16	Sequencing	3 months	2 micrograms DNA	AEGH	ISO 17025 EN PROCESS	1390
Multiple Endocrine Neoplasia type 1	131100	MEN1	Sequencing (all coding exons)	Sequencing (all coding exons)	2 - 4 months	2 micrograms DNA		in preparation	400
Multiple Endocrine Neoplasia type 2A	171400	RET	Sequencing (exon 10 and 11)	Sequencing (exon 10 and 11)	< 2 months	2 micrograms DNA		in preparation	400
Multiple Endocrine Neoplasia type 2B	162 300	RET	Sequencing (exon 16)	Sequencing (exon 16)	< 2 months	2 micrograms DNA		in preparation	400
Myocilin (MYOC)	601652	TIGR, GLC1A	Genomic Sequencing of the entire coding region	Genomic Sequencing of the entire coding region	2 - 4 weeks	2 micrograms DNA		DGKL,CAP	1290
Myoclonus epilepsy, ragged red fibers , MERRF	545000	mtDNA tRNA Lys				2 micrograms muscle DNA			290
Myotonia Congenita Autosomal Dominant	#160800	CLCN1	all coding sequence	polymerase chain reaction sequence analysis	60 days	4 micrograms DNA		UNI EN ISO 9001 - CERMET / EMNQ, Istituto Superiore Sanità	770
Myotonia Congenita Autosomal Recessive	#105400	CLCN1	all coding sequence	polymerase chain reaction sequence analysis	60 days	4 micrograms DNA		UNI EN ISO 9001 - CERMET / EMNQ, Istituto Superiore Sanità	770
Myotubular Myopathy (MTM1)	#310400	Myotubularin	all coding sequence	polymerase chain reaction sequence analysis	20 days	4 micrograms DNA		UNI EN ISO 9001 - CERMET / EMNQ, Istituto Superiore Sanità	775
Nail - Patella syndrome	161200	LMX1B	all coding exons	Sequencing	30 days	2 micrograms DNA		ISO 17025:2005 / EMQN	1200
NARP - Neuropathy, ataxia, and retinitis pigmentosa	551500	MTATP6	8993T>G y 8993TàC	Sequencing	20 days	2 micrograms DNA		ISO 17025:2005 / EMQN	295
NAT2	243400	NAT2	NAT*5, NAT*6,NAT*7	PCR - RFLP	2 weeks	2 micrograms DNA		CAP	330
NAT2 genotyping	243400	NAT2	all coding exons	Sequencing	20 days	2 micrograms DNA