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Test Details
Expand Genes
ACTA1, AGRN, ALG14, ALG2, ALG3, ANTXR2, BICD2, BIN1, CHAT, CHMP1A, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, CHST14, CNTN1, CNTNAP1, COL6A1, COL6A2, COL6A3, COLQ, DHCR24, DNM2, DOK7, DPAGT1, ECEL1, EGR2, ERBB3, ERCC1, ERCC5, ERCC6, EXOSC3, FBN1, FBN2, FKBP10, FKRP, FKTN, FLVCR2, GBA, GBE1, GFPT1, GLE1, GMPPB, IGHMBP2, KAT6B, KLHL40, KLHL41, LMNA, LMOD3, LRP4, MAGEL2, MPZ, MTM1, MUSK, MYBPC1, MYH2, MYH3, MYH8, NALCN, NEB, PIEZO2, PIP5K1C, PLOD2, RAPSN, RIPK4, RYR1, SCARF2, SCN4A, SELENON, SKI, SLC35A3, SLC39A13, SLC5A7, SOX10, SYNE1, SYT2, TGFB3, TNNI2, TNNT1, TNNT3, TPM2, TPM3, TRIP4, TRPV4, TSEN54, UBA1, VIPAS39, VPS33B, ZC4H2
- Arthrogryposis multiplex congenita
- Centronuclear Myopathy
- Congenital Contractural Arachnodactyly
- Congenital Myasthenia Syndrome
- Distal Arthrogryposis
- Fetal Akinesia Deformation Sequence/Pena-Shokeir Syndrome
- Lethal Congenital Contracture Syndrome
- Lethal Multiple Pterygium Syndrome
- Ullrich Congenital Muscular Dystrophy
- Molecular confirmation of a clinical diagnosis
- Identification of at-risk family members
- Assist with management/treatment decisions
- Recurrence risk assessment
Ordering
TG80
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs | Extracted DNA
Billing
81403x1; 81404x2; 81405x2; 81406x2; 81407x1; 81408x2
No
Yes
* For price inquiries please email zebras@genedx.com