Myotonic Dystrophy
Clinical Genetic Test
Help
offered by
GTR Test Accession: Help GTR000520107.1
INHERITED DISEASEMUSCULOSKELETALNERVOUS SYSTEM ... View more
Last updated in GTR: 2014-11-28
Last annual review date for the lab: 2020-10-29 Past due LinkOut
At a Glance
Diagnosis; Mutation Confirmation
Myotonic dystrophy
Genes (1): Help
DMPK (19q13.32)
Molecular Genetics - Targeted variant analysis: Trinucleotide repeat by PCR or Southern Blot
Not provided
Not provided
Not provided
Ordering Information
Offered by: Help
Test short name: Help
MD
Specimen Source: Help
  • Amniocytes
  • Amniotic fluid
  • Bone marrow
  • Chorionic villi
  • Cord blood
  • Dried blood spot (DBS) card
  • Fetal blood
  • Peripheral (whole) blood
  • Product of conception (POC)
  • Serum
  • View specimen requirements
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Physician
Lab contact: Help
Anuradha Udumudi, PhD, Lab Director
anu.udumudi@genetech.co.in
+91 4023400932
Contact Policy: Help
Post-test email/phone consultation regarding genetic test results and interpretation is provided to patients/families.
Pre-test email/phone consultation regarding genetic test results and interpretation is provided to patients/families.
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
Yes
Pre-test genetic counseling required: Help
No
Post-test genetic counseling required: Help
No
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
Trinucleotide repeat by PCR or Southern Blot
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis; Mutation Confirmation
Recommended fields not provided:
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
The accuracy of the test is 98% and it does not rule out rare/ untested mutations for the disorder and mutations for other genetic disorders.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Split sample testing
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Category: Not Applicable
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.