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Methylmalonic Acidemia Sequencing NextGen Panel
Clinical Genetic Test
Help
offered by
Children's Hospital Colorado Precision Diagnostics Laboratory
GTR Test Accession: Help GTR000528607.1
INHERITED DISEASEMETABOLIC DISEASEHEMATOLOGY ... View more
Last updated in GTR: 2015-11-05
View version history
Last annual review date for the lab: 2024-03-06 LinkOut
At a Glance
Test purpose: Help
Diagnosis; Mutation Confirmation; Screening
Conditions (25): Help
Homocystinuria due to methylene tetrahydrofolate reductase deficiency; Classic homocystinuria; Cobalamin C disease; ...
Genes (13): Help
ACSF3 (16q24.3), CBLIF (11q12.1), CBS (21q22.3), CD320 (19p13.2), IVD (15q15.1), ...
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
Children's Hospital Colorado Precision Diagnostics Laboratory
View lab's website
Specimen Source: Help
  • Amniocytes
  • Amniotic fluid
  • Cell culture
  • Chorionic villi
  • Cord blood
  • Fetal blood
  • Fibroblasts
  • Isolated DNA
  • Peripheral (whole) blood
  • View specimen requirements
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Physician
  • Nurse Practitioner
  • Physician Assistant
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.
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
Test development: Help
Test developed by laboratory (no manufacturer test name)
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, How to Order, Lab contact for this test, Test strategy
Conditions Help
Total conditions: 25
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 13
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)
Illumina HiSeq™2000 system
Clinical Information
Test purpose: Help
Diagnosis; Mutation Confirmation; Screening
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS? Help
We use the ACMG Standards and Guidelines as outlined in this document: https://www.acmg.net/docs/ACMG%20SG%20Interpretation%20of%20Sequence%20Variants%20GIM%20May%202015%20(3).pdf

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

Will the lab re-contact the ordering physician if variant interpretation changes? Help
Not provided.
Recommended fields not provided:
Clinical validity, Clinical utility, Target population, 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 Confirmation: Help
Any Pathogenic, LIkely Pathogenic and VOUS will be confirmed by Sanger Sequence. Any regions with poor coverage will be Sanger Sequenced. Any deletions identified with be confirmed using qPCR.
Availability: Help
Tests performed
Entire test performed in-house

Test performance comments
Sanger Sequencing for confirmation may, in some cases, be sent to an outside laboratory.
Analytical Validity: Help
Pathogenic variant detection in a patient’s DNA sample is performed by Next Generation sequencing. Next Generation sequencing is preceded by PCR amplification of the targeted genetic region of interest (ROI). The amplification increases the ability to detect nucleotide changes (sensitivity) a million-fold. Changes in the patient DNA sample are compared … View more
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Inter-Laboratory
Recommended fields not provided:
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.