Hereditary Inclusion Body Myopathy (HIBM) Mutation Molecular Detection Build info

Synonyms

• HEREDITARY INCLUSION BODY MYOPATHY
• GNE, GNE M712T TESTING, HEREDITARY INCLUSION BODY MYOPATHY
• LAB11454

Short Name

HEREDITARY INCLUSION BODY MYOPATHY

Procedure Master Number

LAB11454

Procedure ID

115245

Clinical Info

Hereditary inclusion body myopathy (HIBM) is a neuromuscular disorder characterized by slow progression of distal and proximal muscle weakness.  The onset age of this condition is late teens to young adults leading to severe incapacitation within 10 to 20 years of the onset. The disease primarily causes progressive wasting of the arm and leg muscles sparing quadriceps until later in the disease course. Muscle biopsy shows rimmed vacuoles and filamentous inclusions composed of tubular filaments. This disease affects the Jewish Persian community and various Middle Eastern population clusters where it has a prevalence of 1:1500. In the Persian population the disease presents an unusual feature, sparing of the quadriceps. 

Specimen Type

Blood

Container

Lavender Top Tube

Collection Instructions

Container/Tube:  Lavender EDTA tube
Specimen: 1-3 ml of peripheral blood
Transport Temperature:  Room Temperature
 
Note: Pertinent medical information including patient's age, suspected diagnosis and a signed "Patient Consent Form" are required on request form for processing.

Transport Instructions

Room Temperature

Specimen Stability

Specimens are stable for a week refrigerated.

Methodology

Real-Time Polymerase Chain Reaction (PCR)

Days Performed

Monday through Friday
TAT: 8 Calendar days

Performing Laboratory

Northwell Health Laboratories

CPT

81479

PDM

DONOTSEND

Results