RSCGP - Overview: Nephrocalcinosis, Nephrolithiasis, and Renal Electrolyte Imbalance Gene Panel, Varies

Providing a genetic evaluation for patients with a personal or family history suggestive of a hereditary form of nephrocalcinosis, nephrolithiasis, or renal electrolyte imbalance Establishing a diagnosis for a variety of hereditary...

PHLDF - Overview: Philadelphia Chromosome-like Acute Lymphoblastic Leukemia (Ph-like ALL), Diagnostic FISH, Varies

Detecting a neoplastic clone associated with Philadelphia chromosome-like acute lymphoblastic leukemia (ALL), particularly when a classic abnormality is not detected with the initial panel An adjunct to conventional chromosome studies in...

SMNDX - Overview: Spinal Muscular Atrophy Diagnostic Assay, Deletion/Duplication Analysis, Varies

First-tier newborn screening for spinal muscular atrophy (SMA) Prenatal testing for SMA Diagnostic testing to confirm a suspected diagnosis of SMA

SCARA - Overview: Spinocerebellar Ataxia Type 1, 2, 3, 6, or 7, Repeat Expansion Analysis, Varies

Diagnostic or predictive testing when clinical symptoms or a family history are specific to only one type of spinocerebellar ataxia

SRYF - Overview: Sex-Determining Region Y, Yp11.3 Deletion, FISH

Detecting the deletion or addition of the SRY gene in conjunction with conventional chromosome studies

STICK - Overview: Tick-Borne Antibodies, Modified 2-Tier, ELISA, Serum

Evaluation of the most common tick-borne diseases found in the United States, including Lyme disease, human monocytic and granulocytic ehrlichiosis, and babesiosis using the modified 2-tier testing algorithm approach Evaluation of patients...

DD22F - Overview: 22q11.2 Deletion/Duplication, FISH, Varies

Establishing a diagnosis of 22q deletion/duplication syndromes Detecting cryptic rearrangements involving 22q11.2 or 22q11.3 that are not demonstrated by conventional chromosome studies

AMLMF - Overview: Acute Myeloid Leukemia (AML), Specified FISH, Varies

Detecting recurrent common chromosome abnormalities seen in patients with acute myeloid leukemia (AML) using a client-specified probe set An adjunct to chromosome studies in patients with AML Evaluating specimens in which chromosome...

BWRS - Overview: Beckwith-Wiedemann Syndrome/Russell-Silver Syndrome, Molecular Analysis, Varies

Confirming a clinical diagnosis of Beckwith-Wiedemann syndrome (BWS) or Russell-Silver syndrome (RSS) Prenatal diagnosis if there is a high suspicion of BWS/RSS based on ultrasound findings or in families at risk for BWS/RSS This assay...

CHDGG - Overview: Congenital Heart Disease Gene Panel, Varies

Providing a genetic evaluation for patients with a personal or family history of congenital heart disease Establishing a diagnosis of a genetic condition associated with congenital heart disease