Test Directory

FISH is useful to identify chromosome abnormalities in patients with pediatric or adult acute lymphoblastic leukemia or acute lymphocytic leukemia (ALL) for diagnostic and prognostic purposes as well as for follow-up to evaluate patient response to therapy. Companion testing with chromosome analysis is recommended.

FISH is useful to identify and track chromosome abnormalities in patients with acute myeloid leukemia (AML) or acute promyelocytic leukemia (APL) for diagnostic and prognostic purposes as well as for follow-up to evaluate patient response to therapy.

This test is intended to be used in the diagnosis and clinical management of patients with inborn errors of metabolism related to fatty acid oxidation and/or organic acidemias.

This test is intended to be used in the diagnosis and clinical management of patients with inborn errors of metabolism related to fatty acid oxidation and organic acidemias. This test, or a targeted subpanel version of this test (TESTs 4010 – 4060), is also the preferred follow-up acylcarnitine assay when newborn screen results identify an ambiguous acylcarnitine elevation (see targeted subpanels below). This advanced method was developed by our laboratory as an improved alternative to current acylcarnitine testing (Luna et al. (2022); PMID 34954532). This test quantifies 61 analytes including all acylcarnitine species in our basic acylcarnitine analysis (TEST 2000) with the advantage of providing unambiguous separation and quantification of clinically important isomeric/isobaric acylcarnitines. This method includes clinically relevant ratio calculations and quantifies an expanded list of analytes including free carnitine, carnitine metabolic precursors, and long chain dicarboxylic acylcarnitines useful in the diagnosis of peroxisomal disorders. Targeted subpanels of TEST 4000 are available (TESTs 4010-4060). Specimens are subjected to the TEST 4000 workflow but only the targeted analytes are reported. These tests may be considered to follow-up on flow injection acylcarnitine results (such as “basic acylcarnitine analysis” TEST 2000 or Newborn Screening) that do not clarify acylcarnitine isomer identity or when there is a high clinical concern for a specific metabolic disorder targeted by these panels. If multiple panels are considered, it is more cost effective to order TEST 4000.

This test is intended to be used in the detection of multiple different inborn errors of metabolism including those affecting amino acid metabolism/transport, creatine metabolism, sulfite intoxication, and peroxisomal biogenesis. A common indication for CSF amino acid testing is suspected nonketotic hyperglycinemia (OMIM 605899). In this case, it is critical to also draw plasma concurrently with the CSF collection. This plasma should also be submitted for amino acid analysis to allow a calculation of CSF glycine to plasma glycine ratio. Plasma samples drawn separately (> 1 hour apart) from CSF collection can NOT be used for ratio calculations.

This test is intended to be used in the detection and management of multiple different inborn errors of metabolism including those affecting amino acid metabolism/transport, organic acid metabolism, the urea cycle, and peroxisomal biogenesis.

This test is intended to be used in the detection and management of multiple different inborn errors of metabolism including those affecting amino acid metabolism/transport, organic acid metabolism, and the urea cycle.

Detection of prenatal (fetal) aneuploidy (13, 18, 21, X, Y) in individuals with advanced maternal age (AMA), family history of genetic abnormality, abnormal prenatal screening, or abnormal fetal ultrasound. Assay offered in conjunction with chromosome study. No additional specimen required.

APP full gene sequencing is recommended for individuals with clinical symptoms of early-onset Alzheimer's disease, which begins before age 65, and individuals with a positive family history of early-onset Alzheimer's disease.

Targeted APP sequencing is recommended for individuals with clinical symptoms of early-onset Alzheimer's disease, which begins before age 65 and 1) where either the familial variant is known or 2) the variant has been identified by a research protocol and needs to be confirmed in a clinical laboratory.