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Frequent syndromes panel
Clinical Genetic Test
Help
offered by
Genolife
GTR Test Accession: Help GTR000567631.2
INHERITED DISEASEDYSMORPHOLOGYNERVOUS SYSTEM ... View more
Last updated in GTR: 2023-08-05
View version history
Last annual review date for the lab: 2023-08-05 LinkOut
At a Glance
Test purpose: Help
Diagnosis; Mutation Confirmation
Conditions (6): Help
Chromosome 1p36 deletion syndrome; 5p partial monosomy syndrome; Chromosome 22q11.2 deletion syndrome, distal; ...
Chromosomal regions/ Mitochondria (7): Help
15q24; 17p; 17q21.31; 1p36; 22q11; ...
Methods (1): Help
Molecular Genetics - Deletion/duplication analysis: Multiplex Ligation-dependent Probe Amplification (MLPA)
Target population: Help
Not provided
Clinical validity: Help
Not provided
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
Genolife
View lab's website
Test short name: Help
GEN2
Specimen Source: Help
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • In-State Patients
  • Public Health Mandate
How to Order: Help
I am interested in the study
Order URL
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
Custom Deletion/Duplication Testing
Informed consent required: Help
No
Pre-test genetic counseling required: Help
No
Post-test genetic counseling required: Help
No
Recommended fields not provided:
Test Order Code, Lab contact for this test, Contact policy, Test strategy, Test development
Conditions Help
Total conditions: 6
Condition/Phenotype Identifier
Test Targets
Chromosomal regions/Mitochondria Help
Total chromosomal regions/mitochondria: 7
Chromosomal region/Mitochondrion Associated condition
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument *
Deletion/duplication analysis
Multiplex Ligation-dependent Probe Amplification (MLPA)
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis; Mutation Confirmation
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
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
0.96 for MLPA
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

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