X-Linked Mental Retardation Types 21/34 (IL1RAPL1)
GTR Test Accession: Help GTR000529149.1
INHERITED DISEASENERVOUS SYSTEMPSYCHIATRIC ... View more
Registered in GTR: 2016-01-28
Last annual review date for the lab: 2021-11-30 Past due LinkOut
At a Glance
Diagnosis; Mutation Confirmation
Intellectual disability, X-linked 21
Genes (1): Help
IL1RAPL1 (Xp21.3-21.2)
Molecular Genetics - Deletion/duplication analysis: Multiplex Ligation-dependent Probe Amplification (MLPA); ...
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
Test short name: Help
IL1RAPL1
Specimen Source: Help
  • Amniocytes
  • Amniotic fluid
  • Cell culture
  • Chorionic villi
  • Cord blood
  • Fibroblasts
  • Isolated DNA
  • Peripheral (whole) blood
  • Product of conception (POC)
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
Custom mutation-specific/Carrier 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
Genes Help
Total genes: 1
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 2
Method Category Help
Test method Help
Instrument *
Deletion/duplication analysis
Multiplex Ligation-dependent Probe Amplification (MLPA)
Sequence analysis of the entire coding region
Bi-directional Sanger Sequence Analysis
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis; Mutation Confirmation
Recommended fields not provided:
Technical Information
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
Yes

Method used for proficiency testing: Help
Intra-Laboratory
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Not provided
Additional Information

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