Genetic Testing Company | The DNA Diagnostic Experts | GeneDx

Free the Data!
Please consider submitting BRCA1/2 testing results from your patients to www.sharingclinicalreports.org.
See: http://nyti.ms/14hUJsu for an explanation of the issue.
Thank you, Your GeneDx Team

Maple Syrup Urine Disease, Type III

The clinical phenotype of Dihydrolipoamide Dehydrogenase Deficiency (DLD) or Maple Syrup Urine Disease (MSUD) Type 3 differs considerably from that seen in classic, intermediate or intermittent MSUD and ranges from severe neonatal presentation with neurological deficits to less severe presentations in childhood that include exertional fatigue between decompensation episodes. Patients may also present with severe [...]

+ Mutation-specific testing   + Prenatal testing

The clinical phenotype of Dihydrolipoamide Dehydrogenase Deficiency (DLD) or Maple Syrup Urine Disease (MSUD) Type 3 differs considerably from that seen in classic, intermediate or intermittent MSUD and ranges from severe neonatal presentation with neurological deficits to less severe presentations in childhood that include exertional fatigue between decompensation episodes. Patients may also present with severe liver failure.

+ Mutation-specific testing   + Prenatal testing

Tests Available

DLD Gene Sequencing

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
DLD
Clinical Utility:
  • Confirmation of biochemical diagnosis
  • Carrier testing
Lab Method:
Capillary Sequencing Reflex to Exon Array

ORDERING

Test Code:
490
Turnaround Time:
4-5 weeks
Preferred Specimen:
2-5 mL Blood - Lavender Top Tube

BILLING

CPT Codes:
81406x1
Billing Information:
View Billing Policy
ICD Codes:
  • 796.6: Abnormal findings on neonatal screening
  • 270.3: Disturbances of branched-chain amino-acid metabolism, Disturbances of metabolism of leucine, isoleucine, and valine, Hypervalinemia Intermittent branched-chain ketonuria, Leucine-induced hypoglycemia, Leucinosis, Maple syrup urine disease

REFERENCES

  1. Nellis, M and Danner, D (2001) Am J Hum Genet 68:232-237
  2. Quental et al., (2008) Mol Genet Metab 94:148-156
  3. Flaschker et al., (2007) J Inherit Metab Dis 30:903-909
  4. Nellis et al., (2003) Mol Genet Metab 80:189-195
  5. Rodriguez-Pombo et al., (2006) Hum Mutat 27:715
  6. Henneke et al., (2003) Hum Mutat 22:417

Back To Top