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Invitae Supplemental Metabolic Newborn Screening Panel

Test code: 98003

Test description

The Invitae Supplemental Metabolic Newborn Screening Panel analyzes genes associated with metabolic conditions that are in the differential diagnosis for metabolic newborn screening disorders or may present in the newborn period but are not screened for by U.S. or state newborn screening. This panel includes but is not limited to congenital disorders of glycosylation, Smith-Lemli-Opitz syndrome, carbonic anhydrase VA deficiency, and certain lysosomal storage disorders. The Invitae Supplemental Metabolic Newborn Screening Panel may be appropriate for symptomatic infants, premature infants, or babies in the neonatal intensive care unit who have similar or overlapping clinical symptoms with metabolic newborn screening disorders but have tested negative on the Invitae Metabolic Newborn Screening Confirmation Panel. Testing of these genes may confirm a suspected diagnosis and help guide treatment and management decisions.

Disorders tested

Ordering information

Turnaround time:

10–21 calendar days (14 days on average)

New York approved:

Yes

Preferred specimen:

3mL whole blood in a purple-top EDTA tube (K2EDTA or K3EDTA)

Alternate specimens:

Saliva, buccal swab, and gDNA are also accepted.
Learn more about specimen requirementsRequest a specimen collection kit

Clinical description

To view the complete clinical description of this panel, click here.

Clinical description

Assay information

Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion/duplication analysis using next-generation sequencing technology (NGS).

Our sequence analysis covers clinically important regions of each gene, including coding exons and 10 to 20 base pairs of adjacent intronic sequence on either side of the coding exons in the transcript listed below, depending on the specific gene or test. In addition, the analysis covers select non-coding variants. Any variants that fall outside these regions are not analyzed. Any limitations in the analysis of these genes will be listed on the report. Contact client services with any questions.

Based on validation study results, this assay achieves >99% analytical sensitivity and specificity for single nucleotide variants, insertions and deletions <15bp in length, and exon-level deletions and duplications. Invitae's methods also detect insertions and deletions larger than 15bp but smaller than a full exon but sensitivity for these may be marginally reduced. Invitae’s deletion/duplication analysis determines copy number at a single exon resolution at virtually all targeted exons. However, in rare situations, single-exon copy number events may not be analyzed due to inherent sequence properties or isolated reduction in data quality. Certain types of variants, such as structural rearrangements (e.g. inversions, gene conversion events, translocations, etc.) or variants embedded in sequence with complex architecture (e.g. short tandem repeats or segmental duplications), may not be detected. Additionally, it may not be possible to fully resolve certain details about variants, such as mosaicism, phasing, or mapping ambiguity. Unless explicitly guaranteed, sequence changes in the promoter, non-coding exons, and other non-coding regions are not covered by this assay. Please consult the test definition on our website for details regarding regions or types of variants that are covered or excluded for this test. This report reflects the analysis of an extracted genomic DNA sample. In very rare cases, (circulating hematolymphoid neoplasm, bone marrow transplant, recent blood transfusion) the analyzed DNA may not represent the patient's constitutional genome.

Assay information

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Primary panel

192 genes selected
A4GALT
ACAD9
ALDH18A1
ALG1
ALG11
ALG12
ALG13
ALG14
ALG2
ALG3
ALG6
ALG8
ALG9
ARCN1
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