Supplemental Metabolic Newborn Screening Panel Test code: 98003 • 10–21 days turnaround time - 192 genes
Supplemental Metabolic Newborn Screening Panel
This panel analyzes genes associated with inherited metabolic conditions that may be included in the differential diagnosis of abnormal newborn metabolic screening results or that may present during the newborn period but are not routinely detected through standard U.S. or state newborn screening programs.
Conditions evaluated may include, but are not limited to:
- Congenital disorders of glycosylation
- Smith-Lemli-Opitz syndrome
- Carbonic anhydrase VA deficiency
- Certain lysosomal storage disorders
- Other inherited metabolic conditions that may present during infancy
Who May Benefit From Testing
This panel may be appropriate for symptomatic newborns or infants, including premature infants and babies receiving care in a neonatal intensive care unit (NICU), who present with clinical findings that overlap with metabolic newborn screening disorders but have not received a definitive diagnosis.
Testing may also be considered when an infant has clinical features suggestive of an inherited metabolic disorder despite negative or inconclusive results from other metabolic screening or diagnostic testing.
Genetic testing may help:
- Confirm or clarify a suspected metabolic diagnosis
- Identify an underlying genetic cause
- Distinguish between metabolic disorders with overlapping clinical features
- Guide treatment and medical management
- Support appropriate monitoring and follow-up
- Inform genetic counseling and family planning
- Identify potentially affected family members who may benefit from genetic evaluation
Ordering Information
Turnaround Time:
Approximately 10–21 calendar days, with an average turnaround time of approximately 14 days.
New York Approved:
Yes.
Preferred Specimen:
3 mL of whole blood collected in a purple-top EDTA tube (K2EDTA or K3EDTA).
Alternate Specimens:
Saliva, buccal swab, and genomic DNA (gDNA) may also be accepted, subject to applicable specimen requirements.
Testing Methodology
The panel uses next-generation sequencing (NGS) technology to perform comprehensive gene analysis, including sequencing and deletion/duplication analysis, to identify genetic variants associated with inherited metabolic disorders.
Important Testing Consideration:
Genetic testing should be interpreted in conjunction with the infant's newborn screening results, clinical presentation, metabolic laboratory findings, family history, and other diagnostic evaluations. A negative genetic result does not necessarily exclude all metabolic disorders, and additional biochemical or molecular testing may be appropriate based on the clinical circumstances.