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Test Code 8015

Cutis Laxa via the LTBP4 Gene

LTBP4

N/A

Who is this test for?

Candidates for this test are patients with symptoms consistent with cuties laxa with pulmonary emphysema, pulmonary artery stenosis, gastrointestinal/urinary malformations, dysmorphic facial features and the family members of patients who have LTBP4 pathogenic variants. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in LTBP4.

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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