Classic view of this page
Predominantly distal muscular atrophy
Clinical Genetic Test
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offered by
Genologica Medica
View lab's test page
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GTR Test Accession: Help GTR000597178.1
INHERITED DISEASENERVOUS SYSTEMDYSMORPHOLOGY ... View more
Registered in GTR: 2021-11-30
View version history
Last annual review date for the lab: 2021-11-17 Past due LinkOut
At a Glance
Test purpose: Help
Diagnosis; Mutation Confirmation
Conditions (43): Help
Menkes kinky-hair syndrome; Adult-onset proximal spinal muscular atrophy, autosomal dominant; Amyotrophic lateral sclerosis type 1 more...
Genes (18): Help
ATP7A (Xq21.1); BICD2 (9q22.31); BSCL2 (11q12.3); CHCHD10 (22q11.23); DCTN1 (2p13.1) more...
Methods (1): Help
Molecular Genetics - Sequence analysis of the entire coding region: Next-Generation (NGS)/Massively parallel sequencing (MPS)
Target population: Help
Not provided
Clinical validity: Help
Not provided
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
Genologica Medica
View lab's website
View lab's test page
Test short name: Help
Predominantly distal muscular atrophy
Specimen Source: Help
  • Amniotic fluid
  • Bone marrow
  • Buccal swab
  • Cell culture
  • Chorionic villi
  • Cord blood
  • Dried blood spot (DBS) card
  • Fetal blood
  • Fibroblasts
  • Fresh tissue
  • Frozen tissue
  • Isolated DNA
  • Peripheral (whole) blood
  • Saliva
  • Skin
  • View specimen requirements
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • In-State Patients
  • Nurse Practitioner
  • Physician Assistant
  • Public Health Mandate
  • Registered Nurse
Test Order Code: Help
PU013026
View other test codes
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.
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.
How to Order: Help
In the case of prenatal samples or samples that require special urgency, it must be indicated as such so that the procedure and response times are modified, incorporating an emergency protocol. Types of samples: - Peripheral blood> 5 ml> A 5 ‚Äã‚Äãml tube with EDTA. - Chorionic villi> 5-6 mg …
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Order URL
Test service: Help
Custom Sequence Analysis
Genetic counseling
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
Decline to answer
Pre-test genetic counseling required: Help
No
Post-test genetic counseling required: Help
No
Recommended fields not provided:
Lab contact for this test, Test strategy
Conditions Help
Total conditions: 43
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 18
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument *
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis; Mutation Confirmation
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS? Help
Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Are family members with defined clinical status recruited to assess significance of VUS without charge? Help
Not provided

Will the lab re-contact the ordering physician if variant interpretation changes? Help
Yes.
Recommended fields not provided:
Clinical validity, Clinical utility, Target population, Are family members with defined clinical status recruited to assess significance of VUS without charge?, Is research allowed on the sample after clinical testing is complete?, Sample negative report, Sample positive report
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
The test is 99% sensitive for detecting SNVs and small indels (<20bp).
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Inter-Laboratory

PT Provider: Help
European Molecular Genetics Quality Network, EMQN
VUS:
Software used to interpret novel variations Help
SIFT, PoliPhen, Mutation Taster, PROVEAN
Recommended fields not provided:
Test Confirmation, Assay limitations, Description of internal test validation method, Citations for Analytical validity, Description of PT method, Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review: Help
Not provided
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.