NGS Neurodegenerative disorders Multi-Gene Panel (73 genes)

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.: GTR000500614.4
Last updated: 2023-04-13
Test version history
- 500614.4, last updated: 2023-04-13
- 500614.3, last updated: 2018-03-06
- 500614.2, last updated: 2017-01-05
- 500614.1, last updated: 2014-04-01

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 Congenital hyperammonemia, type I
Offered by Amsterdam UMC Genome Diagnostics

Indication

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

Imported from OMIM

Carbamoyl phosphate synthetase I deficiency is an autosomal recessive inborn error of metabolism of the urea cycle which causes hyperammonemia. There are 2 main forms: a lethal neonatal type and a less severe, delayed-onset type (summary by Klaus et al., 2009). Urea cycle disorders are characterized by the triad of hyperammonemia, encephalopathy, and respiratory alkalosis. Five disorders involving different defects in the biosynthesis of the enzymes of the urea cycle have been described: ornithine transcarbamylase deficiency (311250), carbamyl phosphate synthetase deficiency, argininosuccinate synthetase deficiency, or citrullinemia (215700), argininosuccinate lyase deficiency (207900), and arginase deficiency (207800).

Imported from Human Phenotype Ontology (HPO)

Respiratory alkalosis
Cerebral edema
Cerebellar ataxia
Coma
Lethargy
Seizure
Stroke
Vomiting
Global developmental delay
Protein avoidance
Low plasma citrulline
Episodic ammonia intoxication
Failure to thrive
Irritability
Intellectual disability
Hypoargininemia
Hyperammonemia

Show all

Autosomal recessive inheritance

Conditions tested

Multi-Gene Panel for 49 Treatable Metabolic Neurodegenerative disorders.

Citations

Not provided

Reviews

Clinical resources

Practice guidelines

ACMG Algorithm, 2022
American College of Medical Genetics and Genomics, Algorithm, Decreased Citrulline, 2022
ACMG ACT, 2022
American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, Decreased Citrulline, 2022
ACMG ACT, 2012
American College of Medical Genetics and Genomics, Transition to Adult Health Care ACT Sheet, Carbamoyl Phosphate Synthetase I (CPS I) Deficiency, 2012

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.

NGS Neurodegenerative disorders Multi-Gene Panel (73 genes)

Indication

Clinical summary

Imported from OMIM

Clinical features

Imported from Human Phenotype Ontology (HPO)

Inheritance pattern