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Test Code 8565

LIG4 Syndrome via the LIG4 Gene

LIG4

N/A

Who is this test for?

Individuals suspected of having LIG4 syndrome. Family members may also be tested to determine carrier status of an identified variant in the LIG4 gene. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in LIG4. This test is specifically designed for heritable germline mutations and is not appropriate for the detection of somatic mutations in tumor tissue.

Method
Sequencing with CNV PGxome
Specimen(s)

Blood, Saliva, or Buccal Swab

Order Options

Platform
Test type
OTHER OPTIONS
for standard institutional pricing.

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