July 13, 2015 - Connective Tissue Gene Tests (CTGT) is pleased to announce 3 new NGS panels and 19 new Sanger sequencing tests and panels.

New Tests
Branchiooculofacial syndrome TFAP2A
Sanger
Del Dup
Cerebral arteriopathy, with subcortical infarcts and leukoencephalopathy 1 NOTCH3
Del Dup
NGS
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, YARS, TRPV4
Del Dup
NGS
Cole-Carpenter syndrome 1 P4HB
Del Dup
NGS
Cole-Carpenter syndrome 2 SEC24D
Del Dup
NGS
Distal arthrogryposes NGS panel ECEL1, MYBPC1, MYH3, MYH8, NALCN, PIEZO2, TNNI2, TNNT3, TPM2, FBN2
NGS
Del Dup
Insulin-like growth factor I deficiency IGF1
Del Dup
NGS
Insulin-like growth factor I deficiency and Insulin-like growth factor I, resistance to NGS panel IGF1, IGF1R
Del Dup
NGS
Insulin-like growth factor I, resistance to IGF1R
Del Dup
NGS
Joubert syndrome and related disorders NGS panel AHI1, ARL13B, B9D1, B9D2, C5orf42, CC2D2A, CEP104, CEP290, CEP41, CSPP1, INPP5E, KIAA0556, KIAA0586, KIF14, KIF7, MKS1, NPHP1, NPHP3, OFD1, PDE6D, RPGRIP1L, TCTN1, TCTN2, TCTN3, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, ZNF423, TTC21B
Del Dup
NGS
Lateral meningocele syndrome NOTCH3
NGS
Del Dup
Loeys-Dietz Syndrome 5 TGFB3
Sanger
Del Dup
Pseudoxanthoma elasticum NGS panel ABCC6, GGCX
Del Dup
NGS
Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency GGCX
Del Dup
NGS
Pulmonary hypertension NGS panel ACVRL1, BMPR1B, BMPR2, CAV1, EIF2AK4, FOXF1, KCNK3, SMAD9, ENG
Del Dup
NGS
Pulmonary hypertension, primary, 2 SMAD9
Sanger
Del Dup
Pulmonary hypertension, primary, 3 CAV1
Sanger
Del Dup
Pulmonary hypertension, primary, 4 KCNK3
Sanger
Del Dup
Robinow syndrome NGS panel DVL1, DVL3, ROR2, WNT5A
NGS
Del Dup
Robinow syndrome, autosomal dominant 2 DVL1
Del Dup
NGS

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