PMMIL - Overview: Phosphomannomutase and Phosphomannose Isomerase, Leukocytes

Diagnosing congenital disorders of glycosylation Ia (phosphomannomutase-2 deficiency: PMM2-CDG) and Ib (phosphomannose isomerase deficiency: MPI-CDG) as measured in leukocytes Follow-up testing for patients with an abnormal type I CDG...

TTRX - Overview: Amyloidosis, Transthyretin-Associated Familial, Reflex, Blood

Diagnosis of adult individuals suspected of having transthyretin-associated familial amyloidosis

NGAML - Overview: MayoComplete Acute Myeloid Leukemia, 11-Gene Panel, Varies

Evaluation of acute myeloid leukemia using a focused 11-gene panel at the time of diagnosis, or possibly at the time of relapsed/refractory disease, to help guide classification and possible therapeutic approaches

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.

GCT - Overview: Galactosemia Reflex, Blood

Preferred test for diagnosis, carrier detection, and determination of genotype of galactose-1-phosphate uridyltransferase deficiency, the most common cause of galactosemia Differentiating Duarte variant galactosemia from classic...

NGAMT - Overview: MayoComplete Acute Myeloid Leukemia, Therapeutic Gene Mutation Panel (FLT3, IDH1, IDH2, TP53), Next-Generation Sequencing, Varies

Evaluation of acute myeloid leukemia using a focused 4-gene panel at the time of diagnosis, or possibly relapsed or refractory disease, to help guide possible therapeutic approaches

CRDPU - Overview: Creatine Disorders Panel, Random, Urine

Evaluating patients with a clinical suspicion of arginine:glycine amidinotransferase deficiency, guanidinoacetate methyltransferase deficiency, and creatine transporter deficiency

CRDPS - Overview: Creatine Disorders Panel, Serum

Evaluating patients with a clinical suspicion of arginine:glycine amidinotransferase deficiency,guanidinoacetate methyltransferase deficiency, and creatine transporter deficiency using serum specimens

CRDPP - Overview: Creatine Disorders Panel, Plasma

Evaluating patients with a clinical suspicion of arginine:glycine amidinotransferase deficiency, guanidinoacetate methyltransferase deficiency, and creatine transporter deficiency using plasma specimens

NAGS - Overview: Hexosaminidase A and Total Hexosaminidase, Serum

Carrier detection and diagnosis of Tay-Sachs disease and Sandhoff disease Ruling out I-cell disease This test is not useful for pregnant females or those treated with hormonal contraception.