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Vascular Anomalies and Mosaic Disorders
Clinical Genetic Test
Help
offered by
Children's Hospital of Los Angeles, Center for Personalized Medicine
GTR Test Accession: Help GTR000604276.1
CARDIOVASCULARINHERITED DISEASEIMMUNOLOGY ... View more
Registered in GTR: 2023-04-17
View version history
Last annual review date for the lab: 2023-04-17 Past due LinkOut
At a Glance
Test purpose: Help
Diagnosis; Prognostic; Recurrence; ...
Conditions (8): Help
Complex vascular malformation with associated anomalies; Capillary malformation; Lymphatic malformation 10 more...
Genes (4): Help
ACVRL1 (12q13.13); KRAS (12p12.1); PIK3CA (3q26.32); TEK (9p21.2)
Methods (1): Help
Molecular Genetics - Sequence analysis of select exons: 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
Children's Hospital of Los Angeles, Center for Personalized Medicine
View lab's website
Test short name: Help
VMD4KIDS
Specimen Source: Help
  • Fresh tissue
  • Frozen tissue
  • Isolated DNA
  • Paraffin block
  • Peripheral (whole) blood
  • Skin
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
Lab contact: Help
Jaclyn Biegel, PhD, FACMG, Lab Director
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
Order URL
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
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, Test strategy, Test development
Conditions Help
Total conditions: 8
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 4
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
Next-Generation (NGS)/Massively parallel sequencing (MPS)
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis; Prognostic; Recurrence; Risk Assessment; Therapeutic management
Recommended fields not provided:
Clinical validity, Clinical utility, Target population, What is the protocol for interpreting a variation as a VUS?, Are family members with defined clinical status recruited to assess significance of VUS without charge?, Will the lab re-contact the ordering physician if variant interpretation changes?, Is research allowed on the sample after clinical testing is complete?, Sample negative report, Sample positive report
Technical Information
Test Comments: Help
Gene List: ABCC6, ABCC9, ACTB, ACTG1, ACVRL1, ADAMTS3, AFF4, AKT1, AKT2, AKT3, ALG8, AMER1, ANGPT2, ANKRD11, ANTXR1 , ARAF, ARID1A, ASXL1, ATP2A2, ATP2C1, BMPR2 , BRAF, BRD4, BRWD3, CAMTA1, CARD14, CASK, CAV1, CBL, CCBE1, CCDC88A, CCM2, CCND2, CDC42, CDKN1C, CELSR1, CNTNAP2, COL3A1, COX7B, CTNNB1, DCHS1, DEPDC5, DICER1, DNMT3A, DUSP5, EBP, … View more
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
The validation data was reviewed for accuracy, precision, reportable range, analytical sensitivity, analytical specificity, reference interval, and clinical performance parameter studies, and the performance of the method is considered acceptable for patient. Clinical samples run during validation were found to have - Sensitivity = 100% Specificity = 100% Accuracy = … View more
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
No
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
Consumer resources:

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