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Test Code: CMT1MN

Charcot-Marie- Tooth Disease Type1A (MLPA)

Neurogenetics
This method detects copy number variations (CNVs) in the PMP22, KIF1B, TEKT3, COX10, GJB1, and MPZ genes using genomic DNA isolated from human peripheral whole blood specimens. It is intended to confirm a potential genetic cause for Charcot-Marie-Tooth disease type 1A (CMT1A) (PMP22 duplications), X-linked CMT (CMT1X) (GJB1 deletions), and hereditary neuropathy with liability to pressure palsies (HNPP) (PMP22 deletions). This test is also suitable for molecular genetic testing of at-risk family members.
Sample Type
Blood, amniotic fluid
Turnaround Time
14 Days days
Courier Requirements
Ship overnight at room temperature to receive next day. Do not refrigerate or freeze. Maintain specimen at room temperature.
Pricing

Genes Analyzed

6 genes
PMP22 KIF1B TEKT3 COX10 GJB1 MPZ

Methodology

Multiplex Ligation-dependent Probe Amplification
Test Actions
Specifications
  • Test Code CMT1MN
  • Category Neurogenetics
  • Sample Blood, amniotic fluid
  • TAT 14 Days days
  • Courier Ship overnight at room temperature to receive next day. Do not refrigerate or freeze. Maintain specimen at room temperature.
  • Genes 6 genes analyzed
Related Tests
DMD - Gene Sequencing DMDSEQ
Spinal Muscular Atrophy (SMA) NGS SMANGS
Charcot Marie Tooth disease (CMT) and Hereditary Liability to Pressure Palsies (HNPP) - MLPA + NGS CMT1ML
NOTCH2NLC GGC TRINUCLEOTIDE Repeat Testing - Neuronal Intranuclear Inclusion Disease (NIID) TNR010
HUNTINGTON (HTT) Disease (CAG Repeat Expansion Testing in HD gene) NXHTTD
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