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Epidermolysis Bullosa Dystrophica : COL7A1 gene sequencing
Clinical Genetic Test
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offered by
Institute of Human Genetics
View lab's test page
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GTR Test Accession: Help GTR000556539.1
INHERITED DISEASECONNECTIVE TISSUE
Registered in GTR: 2017-08-14
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Last annual review date for the lab: 2024-09-30 LinkOut
At a Glance
Test purpose: Help
Diagnosis
Conditions (1): Help
Epidermolysis bullosa dystrophica
Genes (1): Help
COL7A1 (3p21.31)
Methods (1): Help
Molecular Genetics - Sequence analysis of select exons: Bi-directional Sanger Sequence Analysis
Target population: Help
Not provided
Clinical validity: Help
Not provided
Clinical utility: Help
Establish or confirm diagnosis
Ordering Information
Offered by: Help
Institute of Human Genetics
View lab's website
View lab's test page
Test short name: Help
COL7A1 gene sequencing
Specimen Source: Help
  • Amniocytes
  • Amniotic fluid
  • Bone marrow
  • Cell culture
  • Chorionic villi
  • Cord blood
  • Fetal blood
  • Fibroblasts
  • Fresh tissue
  • Isolated DNA
  • Peripheral (whole) blood
  • Product of conception (POC)
  • View specimen requirements
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • In-State Patients
  • Licensed Physician
  • Out-of-State Patients
  • Physician Assistant
  • Public Health Mandate
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.
How to Order: Help
Kindly contact us for a prior collection of any specimen or you can visit our website.
Order URL
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
Confirmation of research findings
Test additional service: Help
Custom Prenatal Testing
Custom mutation-specific/Carrier testing
Test development: Help
Test developed by laboratory but exempt from FDA oversight (eg. NYS CLEP approved, offered within a hospital or clinic)
Informed consent required: Help
Based on applicable state law
Pre-test genetic counseling required: Help
Yes
Post-test genetic counseling required: Help
Yes
Recommended fields not provided:
Test Order Code, Lab contact for this test, Test strategy
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
Sequence analysis of select exons
Bi-directional Sanger Sequence Analysis
Automated sequencer
Clinical Information
Test purpose: Help
Diagnosis
Clinical utility: Help
Establish or confirm diagnosis
View citations (1)

Variant Interpretation:
What is the protocol for interpreting a variation as a VUS? Help
For interpreting variant as VUS we use 1000 Genome Database, Human Genome mutation database (HGMD), ExAC database, we also check minor/major allele frequency. Furthermore, we use various softwares to identify the pathogenicity of VUS.All VUS are reconfirmed by Sanger sequencing. All variants are submitted to clinvar.

Are family members with defined clinical status recruited to assess significance of VUS without charge? Help
Yes.

Will the lab re-contact the ordering physician if variant interpretation changes? Help
Yes. The normal process is we reevaluate VUS data from time to time and whenever find some changes we generate new report, and dispatch the same to patient and also inform the referring physician. Usually it is not the person who is investigated at the lab need to recontact but lab … View more
Recommended fields not provided:
Clinical validity, Target population, Is research allowed on the sample after clinical testing is complete?, Sample negative report, Sample positive report
Technical Information
Availability: Help
Tests performed
Interpretation performed in-house
Report generated in-house
Specimen preparation performed in-house
Wet lab work performed in-house
Analytical Validity: Help
The sanger sequencing is greater than 99% sensitive for detecting common variants
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Intra-Laboratory
VUS:
Software used to interpret novel variations Help
SIFT, Polyphen, Mutation Taster etc.

Laboratory's policy on reporting novel variations Help
After confirming VUS by Sanger sequencing, we screen other family members for confirming its pathogenicity and dispatch report to patients and also communicate report to the referring doctors by special telephonic talk and email.
Recommended fields not provided:
Test Confirmation, Assay limitations, Description of internal test validation method, Citations for Analytical validity, PT Provider, Description of PT method, Major CAP category, CAP category, CAP test list
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.