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