|
1p36 deletion syndrome
|
1p36
|
P147-1p36
|
€ 1145
|
|
20q
|
BCL2L1, SRC, MYBL2, PTPN1, ZNF217, BCAS1, GNAS
|
P157-20q
|
€ 1145
|
|
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
|
|
ALL
|
Xp22.33
|
P329-CRLF2
|
€ 1145
|
|
ALL
|
IKZF1, PAX5, ETV6, RB1, BTG1, EBF1, CDKN2A-CDKN2B, Xp22.33
|
P335-ALL-IKZF1
|
€ 1145
|
|
ALL, iAMP21
|
IAMP21, RUNX1
|
P327-iAMP21new
|
€ 1145
|
|
Acute lymphoplastic leukemia (ALL), CML
|
IKZF1 7p12.2
|
P202-IKZF1 (IKAROS)new
|
€ 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€ 573
|
|
Alagille Syndrome (AGS)
|
JAG1 20p12.2
|
P184-JAG1
|
€ 1145
|
|
Albright hereditary osteodystrophy (AHO), Pseudohypoparathyroidism (PHP)
|
GNAS 20q13.32
|
ME031-GNASbasic research
|
€ 1145€ 573
|
|
Alport syndrome, Hereditary Nephritis
|
COL4A5 Xq22
|
P191-COL4A5-mix1
|
€ 1145
|
|
Alport syndrome, Hereditary Nephritis
|
COL4A5 Xq22
|
P192-COL4A5-mix2
|
€ 1145
|
|
Alzheimer disease, early-onset
|
APP 21q21.3
|
P170-APP
|
€ 1145
|
|
Alzheimer's disease (AD)
|
PSEN1 14q24.2
|
P254-PSEN1
|
€ 1145
|
|
Alzheimer's disease, Pick's disease, frontotemporal dementia, cortico-basal degeneration, progressive supranuclear palsy
|
MAPT 17q21
|
P275-MAPT
|
€ 1145
|
|
Alzheimer's disease, late-oneset (LOAD), Papillary renal carcinoma
|
GAB2 11q14, MET 7q31
|
P308-GAB2/MET
|
€ 1145
|
|
Androgen insensitivity syndrome (AIS)
|
AR Xq12
|
P074-AR
|
€ 1145
|
|
Angelman
|
UBE3A, MTHFR, GABRB3, AXIN1
|
P336-UBE3A
|
€ 1145
|
|
Antithrombin (III) deficiency
|
SerpinC1 1q25.1
|
P227-SerpinC1
|
€ 1145
|
|
Aortic aneurysm syndrome
|
TGFBR1 9q22, TGFBR2 3p22
|
P148-TGFBR
|
€ 1145
|
|
Apoptosis mRNA
|
Various
|
R011-Apoptosis
|
€ 1250
|
|
Arrhythmogenic right ventricular cardiomyopathy (ARVC)
|
DSP 6p24, PKP2 12q11.21
|
P168-ARVC-PKP2
|
€ 1145
|
|
Ataxia-Telangiectasia (AT)
|
ATM 11q23
|
P042-ATM-2
|
€ 1145
|
|
Ataxia-Telangiectasia (AT)
|
ATM 11q23
|
P041-ATM-1
|
€ 1145
|
|
Autism
|
15q11-13: UBE3A, GABRB3; 16p11; SHANK3 22q13
|
P343-Autism-1
|
€ 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
|
|
Breast cancer
|
BRCA1 region
|
P239-BRCA1 region
|
€ 1145
|
|
Breast cancer susceptibility
|
CHEK2 22q12, ATM , PTEN, TP53
|
P190-CHEK2
|
€ 1145
|
|
Breast cancer, hereditary
|
BRCA2 13q12.3
|
P090-BRCA2
|
€ 1145
|
|
Breast cancer, hereditary
|
BRCA2, CHEK2
|
P045-BRCA2
|
€ 1145
|
|
Breast cancer, hereditary
|
BRCA2
|
P077-BRCA2
|
€ 1145
|
|
Breast cancer, hereditary
|
BRCA1
|
P087-BRCA1
|
€ 1145
|
|
Breast cancer, hereditary
|
BRCA1, 17q21
|
P002-BRCA1
|
€ 1145
|
|
Breast tumour
|
ERBB2, BIRC5, MYC, TOP2A, ESR1, MTDH, CCND1, CCNE1, EGFR and C11orf30
|
P078-Breast tumor
|
€ 1145
|
|
Broad subtelomere screening
|
All subtelomeres
|
P036-Telomere-3
|
€ 1145
|
|
Broad subtelomeric screening
|
All subtelomeres
|
P070-Telomere-5
|
€ 1145
|
|
Broad subtelomeric screening
|
All subtelomeres
|
P069-Telomere-4
|
€ 1145
|
|
Brugada / long QT
|
SCN5A 3p22
|
P108-SCN5A
|
€ 1145
|
|
CDH1 or E-cadherin
|
CDH1 16q22.1
|
P083-CDH1
|
€ 1145
|
|
Canavan disease
|
ASPA, 17p13
|
P025-Canavan
|
€ 1145
|