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GTR Home > Tests > Microcephaly 1, primary, autosomal recessive, 251200, Autosomal recessive; MCPH1 (Autosomal recessive primary microcephaly) (MLPA)

Performance Characteristics

Availability

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  • Entire test performed in-house

Analytical Validity

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MLPA has greater than 99% sensitive for detecting deletion and duplication variants in case of more than one prob is in the affected area. Sensitivity reduces to 95% for the CNV's detected just one prob. Copy number changes detected by only a single probe always require validation by another method.

Citations

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Proficiency Testing (PT)

Is proficiency testing performed for this test? Help
No

FDA Regulatory Clearances of the Test

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Not provided

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