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GTR Home > Tests > Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, 201750, Autosomal recessive; ABS1 (Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis) (MLPA)

Performance Characteristics



  • Entire test performed in-house

Analytical Validity


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.


Not provided

Proficiency Testing (PT)

Is proficiency testing performed for this test? Help

FDA Regulatory Clearances of the Test


Not provided

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