Maple Syrup Urine Disease (MSUD)

Maple Syrup Urine Disease (MSUD) is a disorder of branched chain amino acid metabolism that is often classified by clinical phenotype as classic, intermediate or intermittent. The classic form presents as a neonate, with the ingestion of dietary protein, with a maple syrup-like odor of cerumen, sweat and urine, irritability, poor feeding, vomiting, lethargy and a progressive encephalopathy that may result in coma with respiratory failure. The intermediate and intermittent forms are milder and may present with anorexia, poor growth, irritability or developmental delay later in infancy or childhood, frequently in response to stress; however, even patients who are without symptoms can develop a sudden life threatening coma. The intermittent form presents with encephalopathy and metabolic disturbances when the patient undergoes catabolic stress.

Tests Available

Forms and Documents

Test Details

  • Confirmation of biochemical diagnosis
  • Carrier testing

Ordering

4881
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

81405x1
No
Yes
For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

Forms and Documents

Test Details

  • Confirmation of biochemical diagnosis
  • Carrier testing

Ordering

4882
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

81406x1
No
Yes
For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

Forms and Documents

Test Details

  • Confirmation of biochemical diagnosis
  • Carrier testing

Ordering

4883
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

81406x1
No
Yes
For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

Forms and Documents

Test Details

BCKDHA, BCKDHB, DBT
  • Confirmation of biochemical diagnosis
  • Carrier testing

Ordering

488
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

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

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.