Fetal Akinesia Deformation Sequence/Pena-Shokeir Syndrome

Forms and Documents

Test Details

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
  • 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

Forms and Documents

Test Details

BICD2, CHRNG, CHST14, CNTNAP1, ECEL1, FBN2, GLE1, MYH3, NALCN, PIEZO2, TNNI2, TNNT3, TPM2, ZC4H2
  • Molecular confirmation of a clinical diagnosis
  • Identification of at-risk family members
  • Assist with management/treatment decisions
  • Recurrence risk assessment

Ordering

TG76
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs | Extracted DNA

Billing

81479x1
No
Yes
* For price inquiries please email zebras@genedx.com

Forms and Documents

Test Details

ACTA1, CHRNA1, CHRND, CHRNE, CHRNG, CNTN1, CNTNAP1, DOK7, ECEL1, ERBB3, FKRP, GBE1, GLE1, KLHL40, LMOD3, MAGEL2, MUSK, MYBPC1, MYH3, PIEZO2, PLEC, RAPSN, RIPK4, TNNI2, TNNT3, TPM2, ZC4H2, ZMPSTE24
  • Prenatal diagnosis based on ultrasound findings suggestive of arthrogryposis/fetal akinesia

Ordering

TG85
3 weeks
10 mL Amniotic Fluid
20 mg CVS | 2 T25 flasks of cultured amniocytes | 2 T25 flasks of cultured chorionic villi | 3 Ug DNA Concentration

Billing

81265x1; 81404x1; 81479x1
No
Yes
* For price inquiries please email zebras@genedx.com