Neurology

Congenital Muscular Dystrophy Panel

Overview

Test Name

Test Code

NUE1013

Test Category

Gene Panels

Test Subcategory

Neurology

Disease(s) Targeted

Congenital muscular dystrophy

Who Is The Test For?

Patients with a family history, clinical suspicion, or diagnosis of congenital muscular dystrophy.

Test Approach

Whole exome sequencing (WES) with in silico gene panel analysis.

No. of Genes

Panel Content

B3GALNT2, B4GAT1, BET1, CAVIN1, CHKB, COL12A1, COL6A1, COL6A2, COL6A3, CRPPA, DAG1, DMD, DOLK, DPM2, DPM3, DTNA, EMD, FHL1, FKRP, FKTN, GGPS1, GMPPB, GOLGA2, GOSR2, HNRNPA2B1, INPP5K, ITGA7, JAG2, LAMA2, LARGE1, LMNA, MICU1, MSTO1, PLEC, POGLUT1, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PYROXD1, RXYLT1, SELENON, SIL1, SYNE1, TRAPPC11

Deliverables

Clinical Report (Download a sample report here)

Turnaround Time

~3-6 weeks*

Specimen Requirements

For detailed information about the sample requirements, please consult our clinical sample requirements page.

*Turnaround times are estimated from receipt of satisfactory specimen and test request form at the laboratory to release of clinical report. The turnaround time may vary depending on the nature of the specimen and the complexity of the investigation required. The above table is only a guideline and the complexity of a case and the requirement for further investigations may change this.

About Congenital muscular dystrophy

Congenital muscular dystrophy is a group of inherited disorders causing muscle weakness and stiffness from birth.

Congenital Muscular Dystrophy Panel

Overview

Test Name

Test Code

Test Category

Test Subcategory

Disease(s) Targeted

Who Is The Test For?

Test Approach

No. of Genes

Panel Content

Deliverables

Turnaround Time

Specimen Requirements

About Congenital muscular dystrophy

Gene Panel Workflow

Consent, Test Request, and Sample Collection

Data Generation

Bioinformatics and Analysis

Reporting