Aortic aneurysm, familial thoracic (AAT), TGFB3 related TGFB3
Sanger
Del Dup
Branchiooculofacial syndrome (BOFS) TFAP2A
Sanger
Del Dup
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy (CADASIL) NOTCH3
Sanger
Del Dup
Charcot Marie Tooth disease NGS panel AARS, AIFM1, BSCL2, C12ORF65, COX6A1, DHTKD1, DNM2, DYNC1H1, EGR2, FGD4, FIG4, GARS, GDAP1, GJB1, GNB4, HADHB, HSPB1, HSPB8, KARS, KIF1B, LITAF, LMNA, LRSAM1, MED25, MFN2, MPZ, MTMR2, NDRG1, NEFL, PDK3, PLEKHG5, PMP22, PRPS1, PRX, RAB7A, SBF1, SBF2, SH3TC2, TFG, TRIM2, TRPV4, YARS
Del Dup
NGS
Cole-Carpenter syndrome 1 (CLCRP1) P4HB
Sanger
Del Dup
Cole-Carpenter syndrome 2 (CLCRP2) SEC24D
Sanger
Del Dup
Distal arthrogryposes NGS panel ECEL1, FBN2, MYBPC1, MYH3, MYH8, PIEZO2, TNNI2, TNNT3, TPM2
Del Dup
NGS
Insulin-like growth factor I deficiency IGF1
Sanger
Del Dup
Insulin-like growth factor I deficiency and Insulin-like growth factor I, resistance to IGF1, IGF1R
Sanger
Del Dup
Insulin-like growth factor I, resistance to IGF1R
Sanger
Del Dup
Joubert syndrome and related disorders NGS panel AHI1, ARL13B, B9D1, B9D2, C5orf42, CC2D2A, CEP290, CEP41, CSPP1, INPP5E, KIF7, MKS1, NPHP1, NPHP3, OFD1, PDE6D, RPGRIP1L, TCTN1, TCTN2, TCTN3, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TTC21B, ZNF423
Del Dup
NGS
Lateral meningocele syndrome (LMS) NOTCH3
Sanger
Del Dup
Loeys-Dietz Syndrome (LDS), TGFB3 related TGFB3
Sanger
Del Dup
Pseudoxanthoma elasticum (PXE) & PXE-like disorder with multiple coagulation factor deficiency ABCC6, GGCX
Sanger
Del Dup
Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency GGCX
Sanger
Del Dup
Pulmonary hypertension, primary, 1 / 2 / 3 / 4 (PPH1 / PPH2 / PPH3 / PPH4) BMPR2, CAV1, KCNK3, SMAD9
Sanger
Del Dup
Pulmonary hypertension, primary, 2 (PPH2) SMAD9
Sanger
Del Dup
Pulmonary hypertension, primary, 3 (PPH3) CAV1
Sanger
Del Dup
Pulmonary hypertension, primary, 4 (PPH4) KCNK3
Sanger
Del Dup
Robinow syndrome, autosomal dominant 1 / 2 (DRS1 / DRS2) DVL1, WNT5A
Sanger
Del Dup
Robinow syndrome, autosomal dominant 1 / 2 (DRS1 / DRS2) and autosomal recessive (RRS) DVL1, ROR2, WNT5A
Sanger
Del Dup
Robinow syndrome, autosomal dominant 2 (DRS2) DVL1
Sanger
Del Dup

Search Tests

TIP: enter a partial disorder name or gene to widen your search