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CPM Focused Exome Sequencing Analysis and Interpreta
Clinical Genetic Test
Help
offered by
Children's Hospital of Los Angeles, Center for Personalized Medicine
View lab's test page
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GTR Test Accession: Help GTR000591897.1
INHERITED DISEASEIMMUNOLOGYHEMATOLOGY ... View more
Last updated in GTR: 2020-10-07
View version history
Last annual review date for the lab: 2023-04-17 Past due LinkOut
At a Glance
Test purpose: Help
Diagnosis
Conditions (4): Help
Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome; Bone marrow failure syndrome; Combined immunodeficiency, X-linked; ...
Chromosomal regions/ Mitochondria (1): Help
Human genome
Methods (1): Help
Molecular Genetics - Mutation scanning 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
Establish or confirm diagnosis
Ordering Information
Offered by: Help
Children's Hospital of Los Angeles, Center for Personalized Medicine
View lab's website
View lab's test page
Test short name: Help
Focused Exome Sequencing
Specimen Source: Help
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Physician
  • Nurse Practitioner
Test Order Code: Help
https://www.chla.org/sites/default/files/atoms/files/CHLA-CPM-Fo
Lab contact: Help
Vandana Mehta, MSc, Genetic Analyst Specialist
askcpm@chla.usc.edu
+1 323-644-8528
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
Clinical history and notes are required. Please contact lab at askcpm@chla.usc.edu for further questions
Order URL
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
No
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Recommended fields not provided:
Test strategy
Conditions Help
Total conditions: 4
Condition/Phenotype Identifier
Test Targets
Chromosomal regions/Mitochondria Help
Total chromosomal regions/mitochondria: 1
Chromosomal region/Mitochondrion Associated condition
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument
Mutation scanning of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
Illumina HiScan™SQ system
Clinical Information
Test purpose: Help
Diagnosis
Clinical utility: Help
Establish or confirm diagnosis
View citations (1)
  • Clinical utility of genomic sequencing. Neu MB, et al. Curr Opin Pediatr. 2019;31(6):732-738. doi:10.1097/MOP.0000000000000815. PMID: 31693580.

Variant Interpretation:
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
Yes.
Recommended fields not provided:
Clinical validity, Target population, What is the protocol for interpreting a variation as a VUS?, Is research allowed on the sample after clinical testing is complete?, Sample negative report, Sample positive report
Technical Information
Test Comments: Help
Focused exome or targeted exome can be performed for a wide host of genetic disorders in lieu of multi gene panels. Please contact lab for coverage information about genes of interest.
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Approximately 97% of the exonic regions are reliably sequenced with at least 10x coverage using a combination of target capture with Agilent SureSelect V6 and next-generation sequencing on the Illumina NextSeqTM platform.
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

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.