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Molecular karyotype 180K
Clinical Genetic Test
Help
offered by
Genolife
GTR Test Accession: Help GTR000567633.1
INHERITED DISEASEDYSMORPHOLOGYINHERITED DISEASE SUSCEPTIBILITY ... View more
Registered in GTR: 2019-05-18
View version history
Last annual review date for the lab: 2024-07-31 LinkOut
At a Glance
Test purpose: Help
Diagnosis; Screening
Conditions (34): Help
Chromosome 15q13.3 microdeletion syndrome; 15q11q13 microduplication syndrome; 3p- syndrome more...
Chromosomal regions/ Mitochondria (16): Help
15q11-q13; 15q13.3; 15q25; 16p12.1; 16p12.2-p11.2 more...
Methods (1): Help
Molecular Genetics - Deletion/duplication analysis: Microarray
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
GEN11
Specimen Source: Help
  • Buccal swab
  • Cord blood
  • Isolated DNA
  • Plasma
  • Saliva
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • In-State Patients
  • Licensed Physician
  • Public Health Mandate
How to Order: Help
I am interested in the study
Order URL
Test service: Help
Custom Deletion/Duplication Testing
Identity 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: 34
Condition/Phenotype Identifier
Test Targets
Chromosomal regions/Mitochondria Help
Total chromosomal regions/mitochondria: 16
Chromosomal region/Mitochondrion Associated condition
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument *
Deletion/duplication analysis
Microarray
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis; Screening
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
0.99 for microarray
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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