U.S. flag

An official website of the United States government

GTR Home > Tests > Invitae 78 Gene Actionable Disorders Panel


This is a clinical test intended for Help: Screening

Clinical summary


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.

Clinical features


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
Show all

Inheritance pattern


Autosomal recessive inheritance

Conditions tested

Target population


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).


Not provided

Clinical validity


Not provided

Clinical utility


Not provided

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

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.