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
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

889
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

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

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
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

892
6 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

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