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Genomics category list
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A-Z: Genomic tests by gene
A-Z: Genomic tests by gene
ABCC6
AGPAT2
AGPS
AIP
AMPD2 – Pontocerebellar Hypoplasia (PCH)
AP2S1
ARSL (previously ARSE)
BANF1
BSCL2
CASK – Pontocerebellar Hypoplasia (PCH)
CASR
CAV1
CCDC11 -Gastrointestinal atresia
CDC73
CDKN1A
CDKN1B
CDKN2A – Pituitary adenoma
CDKN2B
CDKN2C
CDON
CFC1 – Visceral heterotaxy
CHD7 – Gastrointestinal atresia
CHMP1A – Pontocerebellar Hypoplasia (PCH)
COL4A1
COL4A2
CUL3
DISP1
DLL1
DLL3
DMP1
EBP
EFTUD2
ENPP1
EXOSC3 – Pontocerebellar Hypoplasia (PCH)
FANCB – Gastrointestinal atresia
FANCC – Gastrointestinal atresia
FGD1
FGF23
FGF8
FH
FOXE1 (TTF2)
FOXH1
GALNT3
GAS1
GCM2 -Familial isolated hypoparathyroidism
GLI2
GLI3 -Gastrointestinal atresia
GNA11
GNPAT
HES7
HESX1 -Combined pituitary Hormone Deficiency
JAG1
KCNJ18 – Thyrotoxic periodic paralysis
KL
KLHL3
LFNG
LMNA
MAX
MC2R – Familial Glucocorticoid Deficiency
MCM4 – Familial Glucocorticoid Deficiency
MEN1
MESP2
MID1- Gastrointestinal atresia
MRAP -Familial Glucocorticoid Deficiency
MYCN
NKX2-1 (TTF1)
NKX2-5
NNT-Familial Glucocorticoid Deficiency
NODAL
NOTCH1 – Aortic Valve disease
NOTCH2
NOTCH3
NSDHL
PAX8
PDE11A
PDE4D
PDE8B
PEX7
PHEX
PIK3R1- SHORT syndrome
PLIN1
POLD1- MDP syndrome
POU1F1-Combined pituitary Hormone Deficiency
PPARG
PRKAR1A
PROP1 –
Combined pituitary Hormone Deficiency
PTCH1
PTH – Familial isolated hypoparathyroidism
PTRF
RARS2 – Pontocerebellar Hypoplasia (PCH)
RET
RFX6 – Gastrointestinal atresia
SAMD9 – Normophosphatemic familial tumoral calcinosis
SDHA
SDHAF2
SDHB
SDHC
SDHD
SEPSECS – Pontocerebellar Hypoplasia (PCH)
SHH
SIX3
SLC2A2
SLC34A3
SOS1 – Pure Mucosal neuroma
SOX2 – Gastrointestinal atresia
STAR – Familial Glucocorticoid Deficiency
TDGF1
TGIF1
TMEM127
TRAP1 – VACTERL association
TSEN2 -Pontocerebellar Hypoplasia (PCH)
TSEN34 – Pontocerebellar Hypoplasia (PCH)
TSEN54 – Pontocerebellar Hypoplasia (PCH)
TSHR
TTC7A – Gastrointestinal atresia
VHL
VRK1- Pontocerebellar Hypoplasia (PCH)
WNK4
WRN
ZIC2
ZIC3 – Visceral heterotaxy
ZMPSTE24
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