Direct molecular diagnostics of AGENESIS OF THE CORPUS CALLOSUM WITH … see more Direct molecular diagnostics of AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY; ACCPN  see less
GTR Test Accession: Help GTR000264022.9
INHERITED DISEASENERVOUS SYSTEM
Last updated in GTR: 2021-06-23
Last annual review date for the lab: 2021-06-23 Past due LinkOut
At a Glance
Diagnosis; Mutation Confirmation; Screening
Agenesis of the corpus callosum with peripheral neuropathy
Genes (1): Help
SLC12A6 (15q14)
Molecular Genetics - Targeted variant analysis: Allele-specific primer extension (ASPE)
Carrier screening in the French-Canadian population of the Saguenay and …
The exon 18 mutation (c.2346delG) is the one found in …
Establish or confirm diagnosis; Predictive risk information for patient and/or family members
Ordering Information
Offered by: Help
Laboratoire de Diagnostic Moleculaire
View lab's test page
Test short name: Help
NSMH/SLC12A6
Specimen Source: Help
Who can order: Help
  • Licensed Physician
Test Order Code: Help
NSMH / SLC12A6 gene founder mutation
View other test codes
Lab contact: Help
Contact Policy: Help
Laboratory can only accept contact from health care providers. Patients/families are encouraged to discuss genetic testing options with their health care provider.
How to Order: Help
Specimen: 5 ml of blood in lavender top tube
Sending: < 72 hours, 2-8 degrees Celsius, monday to friday
Paper form
Please observe the CHU de Québec compliance criteria for specimen and form
Order URL
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
    OrderCode: NSMH
Result interpretation
Test additional service: Help
Custom mutation-specific/Carrier testing
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
No
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Recommended fields not provided:
Conditions Help
Total conditions: 1
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 1
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument
Targeted variant analysis
Allele-specific primer extension (ASPE)
Applied Biosystems 3730 capillary sequencing instrument
Clinical Information
Test purpose: Help
Diagnosis; Mutation Confirmation; Screening
Clinical validity: Help
The exon 18 mutation (c.2346delG) is the one found in almost all (>99%) individuals of French-Canadian descent.
View citations (2)
  • Gauvreau C, Brisson JD, Dupré N. Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum. 2006 Feb 02 [updated 2020 Sep 17]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024. PMID: 20301546.
  • https://0-www-ncbi-nlm-nih-gov.brum.beds.ac.uk/books/NBK1372
Clinical utility: Help
Establish or confirm diagnosis
View citations (2)
  • Gauvreau C, Brisson JD, Dupré N. Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum. 2006 Feb 02 [updated 2020 Sep 17]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024. PMID: 20301546.
  • https://0-www-ncbi-nlm-nih-gov.brum.beds.ac.uk/books/NBK1372

Predictive risk information for patient and/or family members
View citations (2)
  • Gauvreau C, Brisson JD, Dupré N. Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum. 2006 Feb 02 [updated 2020 Sep 17]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024. PMID: 20301546.
  • https://0-www-ncbi-nlm-nih-gov.brum.beds.ac.uk/books/NBK1372

Target population: Help
Carrier screening in the French-Canadian population of the Saguenay and Lac-St-Jean regions of Quebec, Canada (frequency 1/23), confirmation of clinical diagnosis, prenatal diagnosis for couples known mutation carriers, family history
Recommended fields not provided:
Technical Information
Test Procedure: Help
The SNaPshot® Multiplex System investigates up to ten SNP markers simultaneously by using PCR amplification, then dideoxy single‐base extension of an unlabeled primer, and then capillary electrophoresis. After electrophoresis and fluorescence detection, the alleles of a single marker appear as different colored peaks at roughly the same size in the … View more
Test Platform:
None/not applicable
Test Confirmation: Help
For each allele, the normal sequence or the mutation is sought by two different reactions (differents primers) and independent (different reaction tubes). For each serie, internal controls of known genotypes are tested in parallel with new samples.
Test Comments: Help
Mutation: the exon 18 mutation (c.2436delG) of the SLC12A6 gene
Test available only for residents of Canada
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Analytical sensitivity and specificity: 99 %
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Formal PT program

PT Provider: Help
Laboratoire de santé publique du Québec (LSPQ)

Description of PT method: Help
For each serie, internal controls of known genotypes are tested in parallel with new samples and a negative control (water) is included.
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Category: FDA exercises enforcement discretion
Additional Information

IMPORTANT NOTE: NIH does not independently verify information submitted to GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.