CMACB - Overview: Chromosomal Microarray, Congenital, Blood

First-tier, postnatal testing for individuals with multiple anomalies that are not specific to well-delineated genetic syndromes, apparently nonsyndromic developmental delay or intellectual disability, or autism spectrum disorders as...

CHRCB - Overview: Chromosome Analysis, Congenital Disorders, Blood

Diagnosis of congenital chromosome abnormalities, including aneuploidy, structural abnormalities, and balanced rearrangements

CD4RT - Overview: CD4 T-Cell Recent Thymic Emigrants, Blood

Evaluating thymic reconstitution in patients following hematopoietic cell transplantation, chemotherapy, immunomodulatory therapy, and immunosuppression Evaluating thymic recovery in patients who are HIV-positive and on highly active...

HCVG - Overview: Hepatitis C Virus Genotype, Serum

Determining hepatitis C virus (HCV) genotype (1 to 5) to guide antiviral therapy in patients with chronic hepatitis C Differentiating between HCV subtypes 1a and 1b This assay should not be used as a screening test for HCV infection. It...

HL57R - Overview: HLA-B*57:01 Genotype, Pharmacogenomics, Varies

Identifying individuals with an increased risk of hypersensitivity reactions to abacavir, based on the presence of the human leukocyte antigen HLA-B*57:01 allele Identifying individuals taking pazopanib who have an increased risk of...

MPS1Z - Overview: Hurler Syndrome, Full Gene Analysis, Varies

Identifying variants within the IDUA gene Confirmation of a diagnosis of mucopolysaccharidosis type I (MPS-I) Carrier testing when there is a family history of MPS- I, but disease-causing variants have not been previously identified

WILMP - Overview: Hereditary Wilms Tumor Panel, Varies

Evaluating isolated and syndromic causes of Wilms tumor Establishing a diagnosis to guide management for individuals with Wilms tumor Identifying a familial variant allowing for predictive testing and appropriate screening of at-risk...

MUGS - Overview: Hexosaminidase A, Serum

Second-order test for diagnosing the B1 variant of Tay-Sachs disease This test is not useful for testing for Sandhoff disease.

HIVQN - Overview: HIV-1 RNA Detection and Quantification, Plasma

Quantifying plasma HIV-1 RNA levels (viral load) in individuals living with HIV-1: -Before initiating antiretroviral therapy to obtain baseline viral load -Who may have developed HIV-1 drug resistance while on antiretroviral therapy -Who...

GALMP - Overview: Galactosemia, GALT Gene, Variant Panel, Varies

Second-tier test for confirming a diagnosis of galactosemia as indicated by enzymatic testing or newborn screening Carrier testing family members of an affected individual of known genotype (has variants included in the panel) Resolution...