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Lymphedema
Clinical Genetic Test
Help
offered by
Genetic Diagnostic Laboratory
View lab's test page
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GTR Test Accession: Help GTR000607923.1
INHERITED DISEASEDYSMORPHOLOGYCARDIOVASCULAR ... View more
Registered in GTR: 2023-06-21
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Last annual review date for the lab: 2024-05-30 LinkOut
At a Glance
Test purpose: Help
Diagnosis; Prognostic; Recurrence; ...
Conditions (15): Help
Primary lymphedema; CLAPO syndrome; CLOVES syndrome more...
Genes (7): Help
BRAF (7q34); CCBE1 (18q21.32); MAP2K1 (15q22.31); MAP2K2 (19p13.3); NRAS (1p13.2) 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
Genetic Diagnostic Laboratory
View lab's website
View lab's test page
Specimen Source: Help
  • Amniocytes
  • Amniotic fluid
  • Buccal swab
  • Cell culture
  • Chorionic villi
  • Cord blood
  • Fetal blood
  • Fibroblasts
  • Fresh tissue
  • Frozen tissue
  • Isolated DNA
  • Paraffin block
  • Peripheral (whole) blood
  • Product of conception (POC)
  • Saliva
  • Skin
Who can order: Help
  • Health Care Provider
  • Licensed Physician
  • Nurse Practitioner
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
Submit test-specific paperwork with sample of blood, tumor tissue, saliva, amniocytes, or chorionic villi
Order URL
Informed consent required: Help
Decline to answer
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Recommended fields not provided:
Test Order Code, Lab contact for this test, Test strategy, Test development
Conditions Help
Total conditions: 15
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 7
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; Prognostic; Recurrence; Risk Assessment; Therapeutic management
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS? Help
Our lab has created a variant classification system which is based on the American College of Medical Genetics and Genomics guidelines (Genet Med. 2015 May;17(5):405-24).

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
Decline to answer.
Recommended fields not provided:
Clinical validity, Clinical utility, 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
Entire test performed in-house
Analytical Validity: Help
100% when utilizing samples with known mutations at known VAFs
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
No
VUS:
Software used to interpret novel variations Help
SIFT, PolyPhen

Laboratory's policy on reporting novel variations Help
Novel variations may be reported with added interpretation based on variant type and in the context of known mutations for the specific gene.
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
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.