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GTR Home > Tests > Otogenetics Hearing Loss and Deafness Multi-Gene NGS Panel


This is a clinical test intended for Help: Diagnosis, Monitoring, Risk Assessment, Therapeutic management

Clinical summary


Imported from GeneReviews

Alagille syndrome (ALGS) is a multisystem disorder with a wide spectrum of clinical variability; this variability is seen even among individuals from the same family. The major clinical manifestations of ALGS are bile duct paucity on liver biopsy, cholestasis, congenital cardiac defects (primarily involving the pulmonary arteries), butterfly vertebrae, ophthalmologic abnormalities (most commonly posterior embryotoxon), and characteristic facial features. Renal abnormalities, growth failure, developmental delays, splenomegaly, and vascular abnormalities may also occur.

Clinical features


Imported from Human Phenotype Ontology (HPO)

  • Renal tubular acidosis
  • Coarctation of aorta
  • Cholestasis
  • Focal segmental glomerulosclerosis
  • Atrial septal defect
  • Ventricular septal defect
  • Hypercholesterolemia
  • Hypertelorism
  • Cirrhosis of liver
  • Intellectual disability, mild
  • Hypotonia
  • Myopia
  • Renal artery stenosis
  • Strabismus
  • Stroke
  • Tetralogy of Fallot
  • Vesicoureteral reflux
  • Hepatic failure
  • Cataract
  • Macrotia
  • Band-shaped keratopathy
  • Frontal bossing
  • Areflexia
  • Papillary thyroid carcinoma
  • Low-set ears
  • Bulbous nose
  • Concave nasal ridge
  • Hemivertebrae
  • Renal hypoplasia
  • Microcornea
  • Axenfeld anomaly
  • Exocrine pancreatic insufficiency
  • Peripheral pulmonary artery stenosis
  • Upslanted palpebral fissure
  • Deeply set eye
  • Delayed speech and language development
  • Posterior embryotoxon
  • Hypertriglyceridemia
  • Triangular face
  • Depressed nasal bridge
  • Severe global developmental delay
  • Long nose
  • Short distal phalanx of finger
  • Abnormal rib morphology
  • Elevated hepatic transaminase
  • Broad forehead
  • Duplicated collecting system
  • Prolonged neonatal jaundice
  • Hypoplasia of the ulna
  • Butterfly vertebral arch
  • Hepatocellular carcinoma
  • Failure to thrive
  • Stage 5 chronic kidney disease
  • Abnormal anterior chamber morphology
  • Renal dysplasia
  • Reduced number of intrahepatic bile ducts
  • Multiple small medullary renal cysts
  • Specific learning disability
  • Chorioretinal atrophy
  • Pigmentary retinopathy
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Inheritance pattern


Autosomal dominant inheritance

Conditions tested

Target population


Newborns who fail the mandatory hearing screen: -to precisely identify the genetic cause -to select the best intervention/treatment Congenitally deaf patients for understanding the cause of their hearing loss and determining appropriate interventions/treatments Family members of congenital deaf persons to determine whether they are carriers of hearing loss mutation(s) Patients with a need for aminoglycoside antibiotics with reason to suspect they may carry aminoglycoside-sensitive mutations Family members of patient with an aminoglycoside-caused hearing loss condition


Not provided

Clinical validity


Not provided

Clinical utility


Establish or confirm diagnosis

  • Genetic and clinical analysis of nonsyndromic hearing impairment in pediatric and adult cases. - PubMed ID: 27785406

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