Special Instructions

In cases where a specific mutation is known to be present in the family, the physician might prefer ordering test 252747 instead. Samples should be shipped overnight at room temperature.

Limitations

This sequencing method does not reliably detect mosaic variants, large deletions, large duplications, inversions, or other rearrangements. It also cannot accurately detect deep intronic variants, distinguish T/A or microsatellite repeat numbers accurately, or determine if heterozygous variants are on the same or different chromosomes. Additionally, the assay may be affected by allele dropout. Note that the test has not been cleared or approved by the FDA.

Biomarkers

LOINC Codes

Result Turnaround Time

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