HPRT1

OMIMHGNC

Synonym(s): HGPRT, HPRT

Locus: Xq26.2

Protein: HPRT1 protein

 

Disorders

Tests

Test Type
Biochemical (3)
Molecular (26)
Panel (14)
Test Method
Microarray (CGH-Oligo, SNP, BAC) (1)
Mutation Scanning of Entire Coding Region (1)
Quantitative Biochemical Analysis (3)
Sequencing, Capillary (Sanger) (8)
Sequencing, Next Gen (13)
Prenatal/Carrier
Prenatal (3)
Carrier (10)
Lab Location
USA(21)
Spain(2)
Portugal(1)
Czech Republic(1)
Korea, Republic of(1)
Poland(3)
 
Hypoxanthine Guanine Phosphoribosyltransferase (HPRT) DeficiencyTest
method(s): ◦ Sequencing, Capillary (Sanger) 
General University Hospital in Prague, Institute of Inherited Metabolic Disorders - Praha, Czech Republic
TAT: 5-6 weeks
price: contact lab
Autism Spectrum Disorders Panel Test
method(s): ◦ Sequencing, Next Gen 
ApolloGen, Inc. - Irvine, CA, USA
Lesch-Nyhan syndrome test
method(s): ◦ Sequencing, Capillary (Sanger) 
Medical Genetics Center, Asan Medical Center - Seoul, Korea, Republic of
Hypoxanthine Phophoribosyltransferase-A
method(s): ◦ Quantitative Biochemical Analysis 
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA
TAT: 2 weeks
price: contact lab
Hypoxanthine Phophoribosyltransferase-R
method(s): ◦ Quantitative Biochemical Analysis 
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA
TAT: 3-4 weeks
price: contact lab
Hypoxanthine Phophoribosyltransferase-F
method(s): ◦ Quantitative Biochemical Analysis 
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA
TAT: 4-5 weeks
price: contact lab
Lesch-Nyhan Syndrome HPRT SEQUENCING
method(s): ◦ Sequencing, Capillary (Sanger) 
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA
TAT: 3-4 weeks
price: contact lab
Lesch-Nyhan Syndrome HPRT SEQUENCING
method(s): ◦ Sequencing, Capillary (Sanger) 
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA
Lesch-Nyhan Syndrome HPRT SEQUENCING
method(s): ◦ Sequencing, Capillary (Sanger) 
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA
TAT: 16-20 weeks
price: contact lab
Autism Panel: Tier 2
method(s):
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
TAT: 12-13 weeks
price: contact lab
X-linked Intellectual Disability: Gene Sequencing and Deletion/Duplication Panel
method(s):
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
TAT: 4-5 weeks
price: contact lab
Lesch-Nyhan Syndrome: HPRT1 Gene Sequencing
method(s):
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
TAT: 4-5 weeks
price: contact lab
Lesch-Nyhan Syndrome: HPRT1 Gene Deletion/Duplication
method(s):
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
TAT: 6-7 weeks
price: contact lab
Sanger sequencing of the HPRT1 gene
method(s): ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Capillary (Sanger) 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
TAT: 8-9 weeks
price: contact lab
X-Linked Non-Specific ID Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA
TAT: 8-9 weeks
price: contact lab
Comprehensive Non-Specific ID SequencingPanel
method(s): ◦ Sequencing, Next Gen 
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA
TAT: 3-5 weeks
price: contact lab
devSEEK Sequence Analysis for Neurodevelopment Disorders, Developmental Delay, Intellectual Disability, Autism Spectrum Disorders
method(s): ◦ Sequencing, Next Gen 
Courtagen Life Sciences, Courtagen Diagnostics Laboratory - Woburn, MA, USA
TAT: 3-5 weeks
price: contact lab
devSEEK Clinical Management Panel, Developmental Delay, Intellectual Disability, Autism Spectrum Disorders
method(s): ◦ Sequencing, Next Gen 
Courtagen Life Sciences, Courtagen Diagnostics Laboratory - Woburn, MA, USA
Lesch-Nyhan Syndrome, Sequencing HPRT1 Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
Reference Laboratory Genetics - Barcelona, Spain
TAT: 3-4 weeks
price: contact lab
X Chromosome Ultra-High Density Microarray
method(s): ◦ Microarray (CGH-Oligo, SNP, BAC) 
ARUP Laboratories, Molecular Genetics Laboratory - Salt Lake City, UT, USA
TAT: 10-12 weeks
price: contact lab
X-Linked Intellectual Disability Panel, Sequencing, 76 Genes
method(s): ◦ Sequencing, Next Gen 
ARUP Laboratories, Molecular Genetics Laboratory - Salt Lake City, UT, USA
Autism Spectrum Disorder Panel
method(s): ◦ Sequencing, Next Gen 
Genomic Laboratory of the DNA Research Center LTD (Centrum Badań DNA sp z o.o.) - Poznań, Poland
Inherited Disease Panel
method(s): ◦ Sequencing, Next Gen 
Genomic Laboratory of the DNA Research Center LTD (Centrum Badań DNA sp z o.o.) - Poznań, Poland
Comprehensive Panel: Developmental Delay, Intellectual Disability, Autism Spectrum Disorders
method(s): ◦ Sequencing, Next Gen 
Genomic Laboratory of the DNA Research Center LTD (Centrum Badań DNA sp z o.o.) - Poznań, Poland
Lesch-Nyhan syndrome (sequence analysis of HPRT1 gene)
method(s): ◦ Sequencing, Capillary (Sanger) 
CGC Genetics - Porto, Portugal
TAT: 4-6 Weeks
price: contact lab
Autism
method(s): ◦ Sequencing, Next Gen 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 2 Weeks
price: contact lab
HPRT1
method(s): ◦ Sequencing, Next Gen 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 4-6 Weeks
price: contact lab
XLID
method(s): ◦ Sequencing, Next Gen 
Fulgent Diagnostics - Temple City, CA, USA
DevSEEK - Lyso Plus panel
method(s): ◦ Sequencing, Next Gen 
Courtagen Life Sciences, Courtagen Diagnostics Laboratory - Woburn, MA, USA

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