MECP2 duplication syndrome
GTR Test Accession: Help GTR000298451.1
INHERITED DISEASEDYSMORPHOLOGYNERVOUS SYSTEM ... View more
Last updated in GTR: 2013-03-06
Last annual review date for the lab: 2021-11-30 Past due LinkOut
At a Glance
Diagnosis; Mutation Confirmation
Syndromic X-linked intellectual disability Lubs type
Cytogenetics - FISH-interphase: Fluorescence in situ Hybridization (FISH); ...
Not provided
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Ordering Information
Offered by: Help
Center for Human Genetics, Inc
View lab's website
View lab's test page
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
Test additional service: Help
Custom Prenatal Testing
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: 3
Method Category Help
Test method Help
Instrument *
FISH-interphase
Fluorescence in situ Hybridization (FISH)
FISH-metaphase
Fluorescence in situ Hybridization (FISH)
Deletion/duplication analysis
Multiplex Ligation-dependent Probe Amplification (MLPA)
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis; Mutation Confirmation
Recommended fields not provided:
Technical Information
Test Comments: Help
Deletion/duplication analysis by MLPA
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
greater than 99%
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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