Macrocephaly, Alopecia, Cultis Laxa, and Scoliosis (MACS)

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
* For price inquiries please email zebras@genedx.com