Nemaline Myopathy

Nemaline myopathy (NM) is a disorder characterized by muscle weakness, depressed/absent deep tendon reflexes and the presence of rod-shaped structures in muscle cells. Clinical expression is variable and ranges from congenital muscle weakness and hypotonia to mild skeletal myopathy of childhood or adult onset. The distribution of weakness is typically proximal, with variable involvement of the facial, bulbar, and respiratory muscles. Many affected infants have feeding difficulties and about 25-40% of infants with congenital NM die, often from respiratory failure. In those who survive the first few years or those with late onset of symptoms, muscle weakness often stabilizes or is slowly progressive. Few patients display a cardiac phenotype. The majority of patients with a mutation in the NEB gene have the typical congenital form of NM. The NEB gene encodes the nebulin protein, which is a component of the skeletal muscle. Creatine kinase levels in NM are normal to mildly elevated. The incidence of NM is 1:50,000 live births, although it is higher in patients with Ashkenazi Jewish ancestry, due to a founder mutation in the NEB gene.

Tests Available

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

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

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

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

Forms and Documents

Test Details

ACTA1, BICD2, CCDC78, CFL2, CHKB, COL12A1, COL6A1, COL6A2, COL6A3, DYNC1H1, FKRP, FKTN, GBE1, IGHMBP2, ITGA7, KBTBD13, KLHL40, KLHL41, LAMA2, LMNA, LMOD3, MEGF10, MICU1, MTM1, NEB, RYR1, SEPN1, TNNT1, TPM2, TPM3, TRIP4, TRPV4, UBA1, VRK1
  • Molecular confirmation of a clinical diagnosis
  • Identification of at-risk family members
  • Assist with management/treatment decisions
  • Recurrence risk

Ordering

892
6 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

81404x1, 81405x1, 81406x2, 81407x1, 81408x1, 81479X1
Yes
Yes
For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

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

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

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

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

Forms and Documents

Test Details

  • Identification of at-risk family members
  • Assist with treatment/management decisions
  • Recurrence risk assessment

Ordering

TG77
6 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs | Extracted DNA

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

81175x1; 81185x1; 81302x1; 81321x1; 81404x1; 81406x2; 81408x2
Yes
Yes
For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.