Special Instructions

This test is not available in New York State. It should only be considered as a part of a comprehensive diagnostic approach, with genetic counseling recommended to interpret the results in conjunction with clinical findings. Patient consent for genetic testing is necessary, and it is the responsibility of the managing physician or institution.

Limitations

The NGS assay does not consistently detect mosaicism or rule out large chromosomal rearrangements that do not affect copy number. It cannot detect repeat expansions. False positives or negatives may result from rare genetic variants or sample mishandling. The interpretation depends on available information and may change as more data become accessible. It has not been FDA cleared or approved.

Biomarkers

LOINC Codes

Result Turnaround Time

Related Documents

Stability Requirements