U.S. flag

An official website of the United States government

GTR Home > Tests > Invitae Arrhythmia Comprehensive Panel

Invitae Arrhythmia Comprehensive Panel

  • GTR Test IDHelp: GTR000528497.5
  • Last updated: 2023-10-10
  • Test version history

Clinical testHelp for Beckwith-Wiedemann syndrome
Offered by Invitae

Indication

This is a clinical test intended for Help: Diagnosis, Pre-symptomatic, Therapeutic management

Clinical summary

Help

Imported from GeneReviews

Beckwith-Wiedemann syndrome (BWS) is a growth disorder variably characterized by neonatal hypoglycemia, macrosomia, macroglossia, hemihyperplasia, omphalocele, embryonal tumors (e.g., Wilms tumor, hepatoblastoma, neuroblastoma, and rhabdomyosarcoma), visceromegaly, adrenocortical cytomegaly, renal abnormalities (e.g., medullary dysplasia, nephrocalcinosis, medullary sponge kidney, and nephromegaly), and ear creases/pits. BWS is considered a clinical spectrum, in which affected individuals may have many of these features or may have only one or two clinical features. Early death may occur from complications of prematurity, hypoglycemia, cardiomyopathy, macroglossia, or tumors. However, the previously reported mortality of 20% is likely an overestimate given better recognition of the disorder along with enhanced treatment options. Macroglossia and macrosomia are generally present at birth but may have postnatal onset. Growth rate slows around age seven to eight years. Hemihyperplasia may affect segmental regions of the body or selected organs and tissues.

Clinical features

Help

Imported from Human Phenotype Ontology (HPO)

  • Cryptorchidism
  • Dandy-Walker syndrome
  • Proptosis
  • Cardiomegaly
  • Hepatomegaly
  • Macroglossia
  • Nephroblastoma
  • Nephrocalcinosis
  • Vesicoureteral reflux
  • Neonatal hypoglycemia
  • Hepatoblastoma
  • Gonadoblastoma
  • Adrenal cortex carcinoma
  • Diastasis recti
  • Nevus flammeus
  • Hemihypertrophy
  • Nephrolithiasis
  • Large fontanelles
  • Enlarged kidney
  • Accelerated skeletal maturation
  • Congenital omphalocele
  • Cardiomyopathy
  • Placental mesenchymal dysplasia
  • Coarse facial features
  • Overgrowth
  • Adrenocortical cytomegaly
  • Overgrowth of external genitalia
  • Pancreatic hyperplasia
  • Midface retrusion
  • Prominent occiput
  • Prominent metopic ridge
  • Renal cortical cysts
  • Posterior helix pit
Show all

Conditions tested

Target population

Help

The Invitae Arrhythmia Comprehensive Panel provides a comprehensive analysis of the genes associated with inherited arrhythmia conditions. This panel also analyzes genes associated with certain syndromic conditions where arrhythmia is a clinical feature. Given the clinical overlap between different arrhythmia conditions, comprehensive testing allows for a more efficient evaluation of multiple conditions based on a single indication for testing.

Citations

Not provided

Clinical validity

Help

Not provided

Clinical utility

Help

Not provided

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.