Spinal Muscular Atrophy

Forms and Documents

Test Details

ASAH1, ATP7A, BICD2, BSCL2, DNAJB2, DYNC1H1, GARS, HSPB1, HSPB8, IGHMBP2, PLEKHG5, REEP1, SIGMAR1, SLC5A7, SMN1*, SMN2*, TRIP4, TRPV4, UBA1, VRK1
  • Molecular confirmation of a clinical diagnosis
  • Identification of at-risk family members
  • Assist with treatment/ management decisions
  • Recurrence risk assessment

*Dosage analysis of SMN1 and SMN2 genes by MLPA only

  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

T406
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81404x1, 81405x2, 81406x2, 81479x1
No
Yes
* For price inquiries please email zebras@genedx.com

Forms and Documents

Test Details

ALDH181, ALS2, BICD2, BSCL2, C19orf12, FUS, HEXA, SETX, SIGMAR1, SLC52A2, SLC52A3, SOD1, SPAST, SPG11, UBQLN2, ZFYVE26
  • Molecular confirmation of a clinical diagnosis
  • Identification of at-risk family members
  • Assist with treatment/ management decisions
  • Recurrence risk assessment
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

T815
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81404x1; 81405x1; 81406x2; 81407x1
No
Yes
* For price inquiries please email zebras@genedx.com

Forms and Documents

Test Details

SMN1, SMN2
  • ​Molecular confirmation of a clinical diagnosis
  • Identification of at-risk family members
  • Assist with treatment/ management decisions
  • Recurrence risk assessment
  • MLPA

Ordering

T789
3 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swab

Billing

81401x1
No
Yes
* For price inquiries please email zebras@genedx.com