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Lesch-Nyhan Syndrome, HPRT-Related Hyperuricemia and Gout via the HPRT1 Gene

Summary and Pricing

Test Method

Sequencing and CNV Detection via NextGen Sequencing using PG-Select Capture Probes
Test Code Test Copy GenesTest CPT Code Gene CPT Codes Copy CPT Codes Base Price
HPRT1 81479 81479,81479 $990
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
7129HPRT181479 81479,81479 $990 Order Options and Pricing

Pricing Comments

Testing run on PG-select capture probes includes CNV analysis for the gene(s) on the panel but does not permit the optional add on of exome-wide CNV analysis. Any of the NGS platforms allow reflex to other clinically relevant genes, up to whole exome or whole genome sequencing depending upon the base platform selected for the initial test.

An additional 25% charge will be applied to STAT orders. STAT orders are prioritized throughout the testing process.

This test is also offered via a custom panel (click here) on our exome or genome backbone which permits the optional add on of exome-wide CNV or genome-wide SV analysis.

Turnaround Time

3 weeks on average for standard orders or 2 weeks on average for STAT orders.

Please note: Once the testing process begins, an Estimated Report Date (ERD) range will be displayed in the portal. This is the most accurate prediction of when your report will be complete and may differ from the average TAT published on our website. About 85% of our tests will be reported within or before the ERD range. We will notify you of significant delays or holds which will impact the ERD. Learn more about turnaround times here.

Targeted Testing

For ordering sequencing of targeted known variants, go to our Targeted Variants page.


Genetic Counselors


  • Li Fan, MD, PhD, FCCMG, FACMG

Clinical Features and Genetics

Clinical Features

Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency results in a spectrum of clinical phenotypes which include Lesch-Nyhan syndrome, HPRT1-related hyperuricemia and gout (Fasullo and Endres 2015).

Lesch-Nyhan syndrome is characterized by motor dysfunction, cognitive impairment, behavioral disturbance and hyperuricemia with onset in infancy and childhood. Symptoms of Lesch-Nyhan syndrome include choreoathetosis, variable intellectual disability, cerebral palsy, developmental delay, nephrolithiasis, and persistent self-mutilation which is a hallmark of this disease (Fasullo and Endres 2015). A variable spectrum of neurological involvement occurs predominantly in males. In rare occasions, females may exhibit Lesch-Nyhan syndrome due to skewed inactivation of X chromosomes (Jinnah et al. 2000).

HPRT-related hyperuricemia, in contrast to Lesch-Nyhan syndrome, is due to partial HPRT deficiency with disease onset usually in childhood. Hyperuricemia increases the risk for crystalluria, nephrolithiasis and gout. Resulting renal complications can lead to nephropathy, even renal failure (Srivastava et al 2002; Jinnah et al 2010; Fu et al 2014). Female carriers may develop hyperuricemia later in life.

HPRT-related gout is another consequence of hyperuricemia due to partial HPRT1 deficiency. This type of gout accounts for less than 2% of all adult male patients with gout (Jinnah et al. 2010; Fu and Jinnah 2012).


Lesch-Nyhan syndrome and other HPRT1-related disorders are inherited in an X-linked recessive manner and caused by pathogenic variants in the HPRT1 gene encoding hypoxanthine guanine phosphoribosyltransferase. This transferase catalyzes the conversion of hypoxanthine to inosine monophosphate and guanine to guanine monophosphate. This transferase plays a central role in the generation of purine nucleotides through the purine salvage pathway. HPRT1 is the only gene known to be responsible for Lesch-Nyhan syndrome. Pathogenic variants in HPRT1 include missense, nonsense, small deletion and insertion, and splice mutations, as well as large deletions in the HPRT1 locus (Jinnah et al. 2000; Fuh and Jinnah 2012; Fu et al. 2014). De novo pathogenic variants have also been reported (Nyhan et al. 2014).

In the case of HPRT1-related hyperuricemia and gout, genotype-phenotype studies imply that pathogenic variants resulting in little or no residual enzyme function are responsible for classic Lesch-Nyhan syndrome, while pathogenic variants retaining residual enzyme activity manifest HPRT1-related hyperuricemia and gout (Jinnah et al 2010).

Clinical Sensitivity - Sequencing with CNV PG-Select

DNA sequence analysis detects HPRT1 pathogenic variants in ~90 -95% of affected Lesch-Nyhan syndrome males and 80% of female carriers due to germline mosaicism (Nyhan et al. 2014). Sensitivity is not available for HPRT1-related gout.

Testing Strategy

This test provides full coverage of all coding exons of the HPRT1 gene, plus ~10 bases of flanking noncoding DNA. We define full coverage as >20X NGS reads or Sanger sequencing.

Indications for Test

HPRT1 sequencing test is recommended for patients with Lesch-Nyhan syndrome. Candidates for HPRT1 testing also include patients with suspected symptoms of HPRT1-related hyperuricemia and gout.


Official Gene Symbol OMIM ID
HPRT1 308000
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT


Name Inheritance OMIM ID
Gout, HPRT-Related XL 300323
Lesch-Lyhan Syndrome XL 300322

Related Test

Nephrolithiasis and Nephrocalcinosis Panel


  • Fasullo M., Endres L. 2015. International journal of molecular sciences. 16: 9431-49. PubMed ID: 25923076
  • Fu R. et al. 2014. Molecular genetics and metabolism. 112: 280-5. PubMed ID: 24930028
  • Fu R., Jinnah HA. 2012. The Journal of Biological Chemistry. 287: 2997-3008 PubMed ID: 22157001
  • Jinnah H. A. et al. 2010. Brain. 133: 671-689 PubMed ID: 20176575
  • Jinnah HA. et al. 2000. Mutation research. 463: 309-26. PubMed ID: 11018746
  • Nyhan WL et al. 2014. Lesch-Nyhan Syndrome. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Bean JJH, Bird TD, Dolan CR, Fong C-T, Smith RJ, and Stephens K, editors. GeneReviews™, Seattle (WA): University of Washington, Seattle. PubMed ID: 20301328
  • Srivastava T. et al. 2002. American journal of medical genetics. 108: 219-22. PubMed ID: 11891689


Ordering Options

We offer several options when ordering sequencing tests. For more information on these options, see our Ordering Instructions page. To view available options, click on the Order Options button within the test description.

myPrevent - Online Ordering

  • The test can be added to your online orders in the Summary and Pricing section.
  • Once the test has been added log in to myPrevent to fill out an online requisition form.
  • PGnome sequencing panels can be ordered via the myPrevent portal only at this time.

Requisition Form

  • A completed requisition form must accompany all specimens.
  • Billing information along with specimen and shipping instructions are within the requisition form.
  • All testing must be ordered by a qualified healthcare provider.

For Requisition Forms, visit our Forms page

If ordering a Duo or Trio test, the proband and all comparator samples are required to initiate testing. If we do not receive all required samples for the test ordered within 21 days, we will convert the order to the most effective testing strategy with the samples available. Prior authorization and/or billing in place may be impacted by a change in test code.

Specimen Types

Specimen Requirements and Shipping Details

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2) Select Additional Test Options

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Note: acceptable specimen types are whole blood and DNA from whole blood only.
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