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Test Code 2055
New York approved

Tuberous Sclerosis Complex (TSC) Deletion/Duplication Testing via MLPA

2 genes

2 - 3 weeks (6 - 11 days STAT)

Need to add or remove a gene?

Who is this test for?
  • Individuals with relevant features who have a clinical or suspected diagnosis of Tuberous Sclerosis Complex
  • Individuals who have a family member with presumed tuberous sclerosis complex without previous genetic testing 
  • Individuals without access to the specific variant information for a family member who has genetically-confirmed tuberous sclerosis complex
  • This test is intended for individuals with a suspected germline cause of tuberous sclerosis complex, therefore is not appropriate for detection of somatic variants in tumor tissue
  • Individuals with negative TSC1/TSC2 sequencing results who still have clinical features of TSC
Method
Multiplex Ligation-Dependent Probe Amplification Assay
Specimen(s)

Blood, Buccal, Saliva

Order Options

OTHER OPTIONS
for standard institutional pricing.

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