Cutis Laxa

Cutis Laxa is a heritable disorder of connective tissue characterized by redundant, inelastic, and wrinkled skin. Other organ systems may be variably involved and the spectrum of clinical severity ranges from relatively mild to lethal in early childhood. Additional features may include joint hypermobility, pulmonary emphysema, cardiovascular abnormalities, hernias and gastrointestinal diverticuli. Physical and neurological development may be delayed or abnormal, and some individuals may have dysmorphic features, skeletal abnormalities, or congenital brain malformations. Skin characteristics similar to those seen in cutis laxa may also be present in arterial tortuosity syndrome5 or occipital horn syndrome.

Tests Available

Forms and Documents

Test Details

ALDH18A1, ATP6V0A2, ATP6V1E1, ATP7A, EFEMP2, ELN, FBLN5, LTBP4, PYCR1, RIN2, SLC2A10
  • Molecular confirmation of a clinical diagnosis in symptomatic individuals
  • Risk assessment of asymptomatic family members of a proband diagnosed with a heritable connective tissue disorder
  • Genetic counseling and recurrence risk determination
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

T999
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81479x1
No
Yes
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