Myotonia Congenita

Forms and Documents

Test Details

ACTA1, ANO5, ASAH1, ATP2A1, B3GALNT2, B4GAT1, BAG3, BICD2, BIN1, BVES, CACNA1S, CAPN3, CAV3, CCDC78, CFL2, CHKB, CLCN1, CNTN1, COL12A1, COL6A1, COL6A2, COL6A3, CRYAB, DAG1, DES, DMD, DNAJB2, DNAJB6, DNM2, DOK7, DPM1, DPM2, DPM3, DYNC1H1, DYSF, EGR2, EMD, FHL1, FKRP, FKTN, FLNC, GAA, GBE1, GMPPB, GNE, IGHMBP2, ISPD, ITGA7, KBTBD13, KLHL40, KLHL41, LAMA2, LAMP2, LARGE, LDB3, LMNA, LMOD3, MEGF10, MICU1, MTM1, MYH2, MYH7, MYOT, NEB, PHKA1, PLEC, PLEKHG5, POMGNT1, POMK, POMT1, POMT2, PYGM, RYR1, SCN4A, SEPN1, SGCA, SGCB, SGCD, SGCG, SIL1, SLC52A2, SLC52A3, SYNE1, TCAP, TMEM5, TNNI2, TNNT1, TNPO3, TOR1AIP1, TPM2, TPM3, TRAPPC11, TRIM32, TRIP4, TRPV4, TTN, UBA1, VCP, VRK1
  • Molecular confirmation of a clinical diagnosis
  • Identification of at-risk family members
  • Assist with treatment/ management decisions
  • Recurrence risk assessment

Ordering

889
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

Billing

81407x1, 81408x2, 81161x1, 81405x2, 81406x2, 81404x3
Yes
Yes
* For price inquiries please email zebras@genedx.com

Forms and Documents

Test Details

ATP2A1, CACNA1S, CAV3, CLCN1, CNBP, DMPK, GLRA1, HINT1, PTRF, SCN4A
  • Molecular confirmation of a clinical diagnosis
  • Identification of at-risk family members
  • Assist with treatment/management decisions
  • Recurrence risk assessment

Ordering

TG82
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs | Extracted DNA

Billing

81187x1; 81234x1; 81404x1; 81406x2
No
Yes
* For price inquiries please email zebras@genedx.com