PCGP - Overview: Porphyria Comprehensive Gene Panel, Varies
Follow up for abnormal biochemical results suggestive of porphyria Establishing a molecular diagnosis for patients with porphyria Identifying variants within genes known to be associated with porphyria, allowing for predictive testing of...
REVE2 - Overview: Erythrocytosis Evaluation, Blood
Definitive, comprehensive, and economic evaluation of an individual with JAK2-negative erythrocytosis associated with lifelong sustained increased hemoglobin or hematocrit
CDGGP - Overview: Congenital Disorders of Glycosylation Gene Panel, Varies
Establishing a molecular diagnosis for patients with congenital disorders of glycosylation Identifying variants within genes known to be associated with congenital disorders of glycosylation, allowing for predictive testing of at-risk...
SSH24 - Overview: Supersaturation Profile, Self-Collect, 24 Hour, Urine
Diagnosis and management of patients with renal lithiasis: -Predicting the likely composition of the stone, in patients who have a radiopaque stone, for whom stone analysis is not available -May aid in designing a treatment program Aiding...
ENDCP - Overview: Hereditary Endocrine Cancer Panel, Varies
Evaluating patients with a personal or family history suggestive of a hereditary endocrine tumor syndrome Establishing a diagnosis of a hereditary endocrine tumor syndrome, allowing for targeted surveillance based on associated risks...
GNF13 - Overview: Factor XIII Deficiency, F13A1 and F13B Genes, Next-Generation Sequencing, Varies
Evaluating factor XIII deficiency (FXIIID) in patients with a personal or family history suggestive of FXIIID Confirming an FXIIID diagnosis with the identification of known or suspected disease-causing alterations in the F13A1 or F13B...
GNF11 - Overview: Hemophilia C (Factor XI Deficiency), F11 Gene, Next-Generation Sequencing, Varies
Evaluating factor XI deficiency (FXID) in patients with a personal or family history suggestive of FXID Confirming an FXID diagnosis with the identification of known or suspected disease-causing alterations in the F11 gene Determining...
Screening for infection with high-risk human papillomavirus (HPV) associated with the development of cervical cancer Individual genotyping of HPV-16 and/or HPV-18 if present This testing is intended for use in clinical monitoring and...
HBEL1 - Overview: Hemoglobin Electrophoresis Evaluation, Blood
Diagnosis and classification of hemoglobin disorders, including thalassemias and hemoglobin variants
Establishing a molecular diagnosis for patients with frontotemporal dementia (FTD) and/or amyotrophic lateral sclerosis (ALS) Identifying variants within genes known to be associated with FTD and/or ALS, allowing for predictive testing of...