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MECP2 Duplication Syndrome
Clinical Genetic Test
Help
offered by
Warren G. Sanger Human Genetics Laboratory
View lab's test page
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GTR Test Accession: Help GTR000562533.3
CAP
INHERITED DISEASEDYSMORPHOLOGYNERVOUS SYSTEM ... View more
Last updated in GTR: 2021-10-14
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Last annual review date for the lab: 2023-10-12 LinkOut
At a Glance
Test purpose: Help
Diagnosis; Mutation Confirmation; Recurrence
Conditions (1): Help
Syndromic X-linked intellectual disability Lubs type
Chromosomal regions/ Mitochondria (1): Help
Xq28
Methods (2): Help
Cytogenetics - FISH-interphase: Fluorescence in situ hybridization; ...
Target population: Help
Not provided
Clinical validity: Help
Not provided
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
Warren G. Sanger Human Genetics Laboratory
View lab's website
View lab's test page
Specimen Source: Help
  • Amniotic fluid
  • Buccal swab
  • Chorionic villi
  • Tissue biopsy
  • Paraffin block
  • Peripheral (whole) blood
  • Product of conception (POC)
  • Skin
  • View specimen requirements
Who can order: Help
  • Health Care Provider
  • Licensed Physician
  • Nurse Practitioner
Lab contact: Help
Joanna Spaulding, MS, Certified Genetic counselor, CGC, Genetic Counselor
labgc@unmc.edu
402-559-2508
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
The requisition is found at www.reglab.org, select client services and then requisitions. Please fully complete the required information. We are able to receive specimens from 8:00am-5:00pm (CST) seven days a week. Specimen requirements can be found under the test directory (www.reglab.org). Feel free to call the lab at 402-559-6420 for …
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Order URL
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, Test strategy, Test development
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: 2
Method Category Help
Test method Help
Instrument *
FISH-interphase
Fluorescence in situ hybridization
FISH-metaphase
Fluorescence in situ hybridization
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis; Mutation Confirmation; Recurrence
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
This test is used for clinical purposes. It should not be regarded as investigational or for research. This laboratory is certified under the Clinical Laboratory Improvement Amendment of 1998 ("CLIA") as qualified to perform high complexity clinical testing.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Formal PT program

PT Provider: Help
American College of Medical Genetics / College of American Pathologists, ACMG/CAP

Description of PT method: Help
Participating in proficiency testing as available by CAP.
Recommended fields not provided:
Test Confirmation, Assay limitations, Description of internal test validation method, Citations for Analytical validity, 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.