Invitae Metabolic Non-Immune Fetal Hydrops Panel
Use
This test analyzes up to 53 genes associated with metabolic conditions that may present as non-immune fetal hydrops (NIHF), which is characterized by excessive fluid accumulation in the fetus. NIHF accounts for approximately 90% of all hydrops cases, not linked to red cell alloimmunization. Genetic testing through this panel can confirm a diagnosis, guiding treatment and management decisions for potentially treatable metabolic disorders involved with fetal hydrops.
Special Instructions
This test is specifically designed for metabolic Mendelian disorders linked to fetal hydrops, excluding causes like red cell alloimmunization, infection, chromosomal abnormalities, hematologic disorders, or malformations.
Limitations
The assay covers clinically important regions of each gene, including coding exons and adjacent intronic sequences. It does not analyze variants outside these regions. Detects single nucleotide variants, insertions, and deletions 99% sensitivity and specificity. However, certain structural rearrangements or variants in complex sequence may not be detected. Mosaicism, phasing, or mapping ambiguities might not be resolved. Full gene lists and variant types covered are detailed in the test definition on the Invitae website.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
10-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3mL
Minimum Volume
Not provided
Container
purple-top EDTA tube (K2EDTA or K3EDTA)