Kleefstra syndrome, 610253, Autosomal dominant (Kleefstra syndrome) (440)
Clinical Genetic Test
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offered by
GTR Test Accession: Help GTR000583868.1
INHERITED DISEASEDYSMORPHOLOGY
Last updated in GTR: 2020-05-19
Last annual review date for the lab: 2022-05-14 Past due LinkOut
At a Glance
Diagnosis
Kleefstra syndrome 1
Molecular Genetics - Deletion/duplication analysis: Microarray
Kleefstra syndrome, 610253, Autosomal dominant (diagnosis/ clinical suspition/ etiology investigation/ …
Not provided
Not provided
Ordering Information
Offered by: Help
Test Order Code: Help
8342
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:
Conditions Help
Total conditions: 1
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 *
Deletion/duplication analysis
Microarray
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis
Target population: Help
Kleefstra syndrome, 610253, Autosomal dominant (diagnosis/ clinical suspition/ etiology investigation/ classification)
Recommended fields not provided:
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Array CGH test has 99% sensitivity and 99% specificity.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
No
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Not provided
Additional Information

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