Congenital Contractural Arachnodactyly

Forms and Documents

Test Details

ACTA2, ADAMTS2, ALDH18A1, ATP6V0A2, ATP6V1E1, ATP7A, B3GALT6, B3GAT3, B4GALT7, BGN, CBS, CHST14, COL11A1, COL11A2, COL12A1, COL1A1, COL1A2, COL2A1, COL3A1, COL5A1, COL5A2, COL9A1, COL9A2, COL9A3, DSE, EFEMP2, ELN, FBLN5, FBN1, FBN2, FKBP14, FLNA, LOX, LTBP4, MAT2A, MED12, MFAP5, MYH11, MYLK, NOTCH1, PLOD1, PRDM5, PRKG1, PYCR1, RIN2, SKI, SLC2A10, SLC39A13, SMAD2, SMAD3, SMAD4, TGFB2, TGFB3, TGFBR1, TGFBR2, TNXB, ZNF469
  • Molecular confirmation of a clinical diagnosis in symptomatic individuals
  • Risk assessment of asymptomatic family members of a proband diagnosed with a heritable connective tissue disorder
  • Genetic counseling and recurrence risk determination

Ordering

J555
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

Billing

81410x1, 81411x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

Forms and Documents

CREATE A CUSTOM PANEL

Test Details

  • Molecular confirmation of a clinical diagnosis in symptomatic individuals
  • Risk assessment of asymptomatic family members of a proband diagnosed with a heritable connective tissue disorder
  • Genetic counseling and recurrence risk determination

Customizable Cardiology Panel

Ordering

J555C
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

Billing

81410x1, 81411x1
No
Yes
* For price inquiries please email zebras@genedx.com

Forms and Documents

Test Details

ADAMTS2, ALDH18A1, ATP6V0A2, ATP6V1E1, ATP7A, B3GALT6, B3GAT3, B4GALT7, CHST14, COL11A1, COL11A2, COL12A1, COL1A1, COL1A2, COL2A1, COL9A1, COL9A2, COL9A3, DSE, EFEMP2, ELN, FBLN5, FBN1, FKBP14, LTBP4, PLOD1, PRDM5, PYCR1, RIN2, SLC39A13, TNXB, ZNF469
  • Molecular confirmation of a clinical diagnosis in symptomatic individuals
  • Risk assessment of asymptomatic family members of a proband diagnosed with a heritable connective
  • tissue disorder
  • Genetic counseling and recurrence risk determination

Ordering

883RE
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

Billing

81408x2; 81479x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

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