Invitae 78 Gene Actionable Disorders Panel

GTR Test IDHelpEach Test is a specific, orderable test from a particular laboratory, and is assigned a unique GTR accession number. The format is GTR00000001.1, with a leading prefix 'GTR' followed by 8 digits, a period, then 1 or more digits representing the version. When a laboratory updates a registered test, a new version number is assigned.: GTR000569472.2
Last updated: 2023-10-10
Test version history
- 569472.2, last updated: 2023-10-10
- 569472.1, last updated: 2022-10-11

Clinical testHelpIn the U.S., clinical tests must be performed under CLIA certification. When a lab uses the same methods for a test in both clinical and research settings, the test appears as two separate GTR records. for Glycogen storage disease, type II
Offered by Invitae

Indication

This is a clinical test intended for HelpPurposes or indications for the test. Lab-provided.: Screening

Imported from GeneReviews

Pompe disease is classified by age of onset, organ involvement, severity, and rate of progression. Infantile-onset Pompe disease (IOPD; individuals with onset before age 12 months with cardiomyopathy) may be apparent in utero but more typically onset is at the median age of four months with hypotonia, generalized muscle weakness, feeding difficulties, failure to thrive, respiratory distress, and hypertrophic cardiomyopathy. Without treatment by enzyme replacement therapy (ERT), IOPD commonly results in death by age two years from progressive left ventricular outflow obstruction and respiratory insufficiency. Late-onset Pompe disease (LOPD; including: (a) individuals with onset before age 12 months without cardiomyopathy; and (b) all individuals with onset after age 12 months) is characterized by proximal muscle weakness and respiratory insufficiency; clinically significant cardiac involvement is uncommon.

Imported from Human Phenotype Ontology (HPO)

Dyspnea
Fever
Cardiomegaly
Hepatomegaly
Macroglossia
Hypotonia
Pleural effusion
Respiratory insufficiency
Splenomegaly
Subarachnoid hemorrhage
Sinus tachycardia
Urinary incontinence
Wolff-Parkinson-White pattern
Muscle weakness
Proximal muscle weakness
Right axis deviation
Areflexia
Difficulty climbing stairs
Elevated circulating creatine kinase concentration
Difficulty walking
Exercise intolerance
Shortened PR interval
Difficulty descending stairs
Limb muscle weakness
Hyporeflexia
Hearing impairment
Firm muscles
Increased muscle glycogen content
Respiratory insufficiency due to muscle weakness
Recurrent respiratory infections
Abnormal CNS myelination
Dilatation of the cerebral artery
Increased circulating NT-proBNP concentration
Increased circulating lactate dehydrogenase concentration
Diaphragmatic paralysis
Increased circulating creatine kinase MB isoform

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Autosomal recessive inheritance

Conditions tested

This test is intended for use to screen individuals for hereditary conditions identified as medically actionable by the American College of Medical Genetics and Genomics (ACMG; Miller, et al. 2022).

Citations

Not provided

Reviews

Clinical resources

Practice guidelines

ACMG ACT, 2022
American College of Medical Genetics ACT SHEET, Newborn Screening ACT Sheet- Pompe Disease (Glycogen Storage Disease type II), 2022
ACMG Algorithm, 2022
American College of Medical Genetics and Genomics, Algorithm, Pompe disease: acid alpha-glucosidase deficiency, 2022

Molecular resources

Consumer resources

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Invitae 78 Gene Actionable Disorders Panel

Indication

Clinical summary

Imported from GeneReviews

Clinical features

Imported from Human Phenotype Ontology (HPO)

Inheritance pattern