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Microdeletion / Microduplication Syndromes
Clinical Genetic Test
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offered by
Molecular Genetics and Cytogenetics, Clinical Laboratory Service
GTR Test Accession: Help GTR000568371.3
INHERITED DISEASESYNDROMIC DISEASEDYSMORPHOLOGY ... View more
Last updated in GTR: 2020-08-10
View version history
Last annual review date for the lab: 2024-07-31 LinkOut
At a Glance
Test purpose: Help
Diagnosis; Mutation Confirmation
Conditions (28): Help
Chromosome 22q11.2 microduplication syndrome; 17q11.2 microduplication syndrome; 4p partial monosomy syndrome more...
Genes (39): Help
CLDN5 (22q11.21); CREBBP (16p13.3); CYP1A1 (15q24.1); DLG1 (3q29); DRC3 (17p11.2) more...
Methods (1): Help
Molecular Genetics - Deletion/duplication analysis: Multiplex Ligation-dependent Probe Amplification (MLPA)
Target population: Help
Not provided
Clinical validity: Help
The detection rates of alterations using Microdeletions/microduplications MLPA (P245) is …
Clinical utility: Help
Establish or confirm diagnosis
Ordering Information
Offered by: Help
Molecular Genetics and Cytogenetics, Clinical Laboratory Service
View lab's website
Specimen Source: Help
  • Peripheral (whole) blood
Who can order: Help
  • Licensed Physician
Test Order Code: Help
2752
Lab contact: Help
Marcela Lagos, MD, Lab Director
mlagos@med.puc.cl
+56 223548515
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.
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:
How to Order, Test strategy, Test development
Conditions Help
Total conditions: 28
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 39
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument *
Deletion/duplication analysis
Multiplex Ligation-dependent Probe Amplification (MLPA)
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis; Mutation Confirmation
Clinical validity: Help
The detection rates of alterations using Microdeletions/microduplications MLPA (P245) is 7% approximately in randomly selected Developmental delay (DD)/mental retardation (also described as intellectual disability) cases with/without malformations. Though MLPA cannot probe the whole genome like cytogenetic microarray, due to its ease and relative low cost it is an important technique … View more
View citations (1)
  • Clinical utility of multiplex ligation-dependent probe amplification technique in identification of aetiology of unexplained mental retardation: a study in 203 Indian patients. Boggula VR, et al. Indian J Med Res. 2014;139(1):66-75. PMID: 24604040.
Clinical utility: Help
Establish or confirm diagnosis
View citations (1)
  • Clinical utility of multiplex ligation-dependent probe amplification technique in identification of aetiology of unexplained mental retardation: a study in 203 Indian patients. Boggula VR, et al. Indian J Med Res. 2014;139(1):66-75. PMID: 24604040.

Variant Interpretation:
Are family members with defined clinical status recruited to assess significance of VUS without charge? Help
Decline to answer.

Will the lab re-contact the ordering physician if variant interpretation changes? Help
Decline to answer.
Recommended fields not provided:
Target population, What is the protocol for interpreting a variation as a VUS?, 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
For validation, 10 samples of patients with alterations in the critical regions covered by the SALSA® MLPA®Probemix P245 Microdeletion Syndromes kit were analyzed. All had been studied by CGH array. There was 100% concordance with the results previously detected with aCGH. Samples from healthy patients were also analyzed, no alterations … View more
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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