Cerebellar Hypoplasia

Forms and Documents

Test Details

AMPD2, CASK, CHMP1A, EXOSC3, OPHN1, RARS2, RELN, SEPSECS, TSEN15, TSEN2, TSEN34, TSEN54, TUBA1A, TUBA8, TUBB2B, TUBB3, VLDLR, VPS53, VRK1
  • Molecular confirmation of a clinical diagnosis
  • Distinguish between causes and forms of cerebellar hypoplasia
  • Genetic counseling
  • Prenatal diagnosis for known familial mutation(s) in at-risk pregnancies

Ordering

700
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

Billing

81479x1
No
Yes
* For price inquiries please email zebras@genedx.com

Forms and Documents

Test Details

AMPD2, CASK, CHMP1A, EXOSC3, OPHN1, RARS2, RELN, SEPSECS, TSEN15, TSEN2, TSEN34, TSEN54, TUBA1A, TUBA8, TUBB2B, TUBB3, VLDLR, VPS53, VRK1
  • Prenatal imaging findings suggestive of pontocerebellar hypoplasia

Ordering

J802
3 weeks
20 mL Amniotic Fluid
20 mg CVS | 2 T25 flasks of cultured amniocytes | 2 T25 flasks of cultured chorionic villi | 3 Ug DNA Concentration

Billing

81265x1, 81479x1
No
Yes
* For price inquiries please email zebras@genedx.com