|
22q11
|
22q11
|
P324-22q11 mix-2
|
€ 1145
|
|
3-methylcrotonylglycinuria I and II
|
MCCC1 3q27, MCCC2 5q12
|
P194-MCCC
|
€ 1145
|
|
9q subtelomeric deletion syndrome (9qSTDS) or Kleefstra syndrome.
|
EHMT1
|
P340-EHMT1
|
€ 1145
|
|
Adult polycystic kidney disease
|
PKD1
|
P351-PKD1
|
€ 1145
|
|
Adult polycystic kidney disease
|
PKD2, PKD1
|
P352-PKD2
|
€ 1145
|
|
Agammaglobulinemia
|
BTK Xq21.3-q22
|
P210-BTK
|
€ 1145
|
|
Age-related macular degeneration (ARMD)
|
CFH, CFHR3, CFHR1, CFHR2, 1q23
|
P236-ARMD mix-1basic research
|
€ 1145€ 572.50
|
|
Alagille Syndrome (AGS)
|
JAG1 20p12.2
|
P184-JAG1
|
€ 1145
|
|
Alport syndrome, Hereditary Nephritis
|
COL4A5 Xq22
|
P191-COL4A5-mix1
|
€ 1145
|
|
Alport syndrome, Hereditary Nephritis
|
COL4A5 Xq22
|
P192-COL4A5-mix2
|
€ 1145
|
|
Alzheimer's disease (AD)
|
PSEN1 14q24.2
|
P254-PSEN1
|
€ 1145
|
|
Androgen insensitivity syndrome (AIS)
|
AR Xq12
|
P074-AR
|
€ 1145
|
|
Antithrombin (III) deficiency
|
SerpinC1 1q25.1
|
P227-SerpinC1
|
€ 1145
|
|
Aortic aneurysm syndrome
|
TGFBR1 9q22, TGFBR2 3p22
|
P148-TGFBR
|
€ 1145
|
|
Arrhythmogenic right ventricular cardiomyopathy (ARVC)
|
DSP 6p24, PKP2 12q11.21
|
P168-ARVC-PKP2
|
€ 1145
|
|
Atherosclerotic cardiovascular disease (risk of)
|
9q21.3
|
P273-PCSK5newbasic research
|
€ 1145
|
|
Autism
|
15q11-13: UBE3A, GABRB3; 16p11; SHANK3 22q13
|
P343-Autism-1
|
€ 1145
|
|
Autism Spectrum Disorder
|
22q13.33
|
P339-SHANK3new
|
€ 1145
|
|
Autosomal dominant lacrimoauriculodentodigital (LADD)
|
FGF10 5p13, FGFR2 10q26
|
P231-FGF10-FGFR2
|
€ 1145
|
|
Bartter syndrome
|
CLCNKB 1p36
|
P266-CLCNKB
|
€ 1145
|
|
Beckwith-Wiedemann Syndrome (BWS), Russell-Silver Syndrome (RSS)
|
11p15 region, H19, IGF2, CDKN1C, KCNQ1
|
ME030-BWS/RSS
|
€ 1145
|
|
Benign familial neonatal convulsion (BFNC)
|
KCNQ2 20q13.33
|
P166-KCNQ2
|
€ 1145
|
|
Birt-Hogg-Dube syndrome
|
FLCN 17p11, Smith-Magenis syndrome region
|
P256-FLCN
|
€ 1145
|
|
Branchio-oto-renal dysplasia syndrome (BOR)
|
EYA1 8q13.3.
|
P153-EYA1
|
€ 1145
|
|
Brugada / long QT
|
SCN5A 3p22
|
P108-SCN5A
|
€ 1145
|
|
Canavan disease
|
ASPA, 17p13
|
P025-Canavan
|
€ 1145
|
|
Cardiac septal defects
|
GATA4 8p23, GATA3 10p15
|
P234-GATA4
|
€ 1145
|
|
Charcot Marie Tooth disease, x-linked
|
GJB1 Xq13.1
|
P129-GJB1
|
€ 1145
|
|
Charge syndrome
|
CHD7 8q12.2
|
P201-Charge
|
€ 1145
|
|
Classic galactosemia
|
GALT 9p13
|
P156-GALT
|
€ 1145
|
|
Cohen syndrome
|
VPS13B 8q22
|
P322-VPS13B mix 2
|
€ 1145
|
|
Cohen syndrome
|
VPS13B 8q22
|
P321-VPS13B mix 1
|
€ 1145
|
|
Congenital Heart Disease (CHD)
|
GATA4 8p23, NKX2-5 5q35, TBX5 12q24, BMP4 14q22, CRELD1 3p25
|
P311-CHD
|
€ 1145
|
|
Congenital adrenal hyperplasia
|
CYP21A2 6p21.3
|
P050-CAH
|
€ 1145
|
|
Congenital adrenal hyperplasia (CAH)
|
P450 oxireductase gene (POR)
|
P312-POR
|
€ 1145
|
|
Congenital long QT syndrome (LQT)
|
KCNQ1 11p15.5, KCNH2 7q35
|
P114-Long-QT
|
€ 1145
|
|
Cornelia de Lange syndrome (CDLS)
|
NIPBL 5q13.1
|
P142-NIPBL-2
|
€ 1145
|
|
Cornelia de Lange syndrome (CDLS)
|
NIPBL 5q13.1
|
P141-NIPBL-1
|
€ 1145
|
|
Craniofacial disorders
|
FGFRs, TWIST, MSX2, ALX4, RUNX2
|
P080-Craniofacial
|
€ 1145
|
|
Creatine transporter, x-linked
|
SLC6A8, Xq28
|
P049-SLC6A8 - ABCD1
|
€ 1145
|
|
Crystalline Corneoretinal
|
CYP4V2
|
P149-CYP4V2
|
€ 1145
|
|
Cystic Fibrosis
|
CFTR 7q31.2
|
P091-CFTR
|
€ 1145
|
|
DPP6, CRKL
|
DPP6, CRKL
|
P349-DPP6-CRKLbasic research
|
€ 1145€ 572.50
|
|
Dandy-Walker Malformation (DWM)
|
ZIC1, ZIC4 3p2, VLDLR 9p24
|
P267-Dandy-Walker
|
€ 1145
|
|
DiGeorge syndrome
|
22q11
|
P250-DiGeorge
|
€ 1145
|
|
DiGeorge syndrome, Velocardiofacial syndrome (VCFS, Cat eye syndrome (CES)
|
22q11
|
P023-DIGEORGE
|
€ 1145
|
|
Diamond-Blackfan anemia (DBA)
|
RPS19 19q13.2, 8p23
|
P212-DBA
|
€ 1145
|
|
Distal spinal muscular atrophy 1 (DSMA1), SMARD1, dHMN6
|
IGHMBP2 11q13
|
P058-IGHMBP2
|
€ 1145
|
|
Drug-transport pump
|
ABCB4 7q21,1
|
P109-ABCB4
|
€ 1145
|
|
Dyskeratosis congenita (DC)
|
DKC1 Xq28
|
P257-TERT
|
€ 1145
|