RETZZ - Overview: Multiple Endocrine Neoplasia Type 2 Syndrome, RET, Full Gene Analysis, Varies
Evaluating patients with a personal or family history suggestive of a multiple endocrine neoplasia type 2 (MEN2) or Hirschsprung disease (HSCR) Establishing a diagnosis of MEN2 or HSCR allowing for targeted cancer surveillance based on...
NONCP - Overview: Neuro-Oncology Expanded Gene Panel with Rearrangement, Tumor
Identifying mutations and rearrangements that may support a diagnosis or help determine prognosis for patients with CNS tumors Identifying specific mutations and rearrangements within genes known to be associated with response or...
Evaluation of known or suspected hematologic neoplasms, specifically of myeloid origin (eg, acute myeloid leukemia, myelodysplastic syndrome, myeloproliferative neoplasm, myelodysplastic/myeloproliferative neoplasm, unexplained cytopenias)...
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...
PMCAG - Overview: Postmortem Cardiomyopathy and Arrhythmia Gene Panel, Tissue
Providing a comprehensive postmortem genetic evaluation in the setting of a sudden death attributed to cardiomyopathy or suspicious for cardiac arrhythmia or with a personal or family history suggestive of a hereditary form of...
PWAS - Overview: Prader-Willi/Angelman Syndrome, Molecular Analysis, Varies
Confirmation of diagnosis in patients suspected of having either Prader-Willi syndrome (PWS) or Angelman syndrome (AS) based on clinical assessment or previous laboratory analysis Prenatal diagnosis in families at risk for PWS or AS
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
WNDZ - Overview: Wilson Disease, ATP7B Full Gene Sequencing with Deletion/Duplication, Varies
Confirming the diagnosis of Wilson disease
UGTFZ - Overview: UDP-Glucuronosyltransferase 1A1 (UGT1A1), Full Gene Sequencing, Varies
Establishing a diagnosis of Crigler-Najjar syndrome type I or type II and the trait of Gilbert syndrome Establishing carrier status for Crigler-Najjar syndrome type I or type II Identifying individuals who are at risk of...
WARSQ - Overview: Warfarin Response Genotype, Varies
Identifying patients who may require warfarin dosing adjustments(3,4) including: -Patients being started on a first prescription for warfarin -Patients who have previously been prescribed warfarin and have required multiple dosing...
February 2020 - Laboratory Genetics & Genomics - Insights
A 71 yr old female with a history of a central nervous system lymphoma, an allogenic stem cell transplant and graft versus host disease was tested for...
inflammatory-bowel-disease-diagnostic-testing-algorithm.pdf
YES <50 mcg/g <50 mcg/g Abnormal >50 mcg/g Normal ANCA present ASCA IgG and IgA absent ANCA absent ASCA IgG or IgA present ANCA absent ASCA IgG or IgA absent >120 mcg/g50-120 mcg/g NO Assessing a patient...
Find out how our sarcoma panel assesses gene mutations and fusions described in more than 50 types of soft tissue, bone, and other mesenchymal tumors....
July 2019 — Cardiovascular - Insights
A 50-year-old man who was known to have systemic hypertension developed sudden onset of severe back pain with associated diaphoresis. He lost...
Mayo Clinic’s Neuro-Oncology practice, the Division of Laboratory Genetics and Genomics tests about 50 brain tumors a week, and upwards of 1,500 brain tumors a year from all over the world....