POLH

OMIMHGNC

Synonym(s): RAD30A, XP-V

Locus: 6p21

Protein: Truncated DNA polymerase eta

 

Disorders

Tests

Test
TAT: 16-20 weeks
price: contact lab
Chromosome Breakage Disorders NGS Panel
method(s): ◦ Sequencing, Next Gen 
Bristol Genetics Laboratory, Southmead Hospital, North Bristol NHS Trust - Bristol, United Kingdom
TAT: 7-8 weeks
price: contact lab
NGS of 9 genes: DDB2, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, POLH, XPA, XPC
method(s): ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Next Gen 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
Skin Diseases
method(s): ◦ Sequencing, Next Gen 
Genomic Laboratory of the DNA Research Center (Centrum Badań DNA sp z o.o.) - Poznań, Poland
TAT: 3-5 weeks
price: $1,790.00
Xeroderma Pigmentosum Deletion/Duplication Panel
method(s): ◦ Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 5-7 weeks
price: $2,390.00
Xeroderma Pigmentosum NextGen Sequencing (NGS) Panel
method(s): ◦ Sequencing, Next Gen 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 4-6 weeks
price: contact lab
Xeroderma Pigmentosum NGS Pannel
method(s): ◦ Sequencing, Next Gen 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 4-6 weeks
price: $5,990.00
Xeroderma Pigmentosum Sanger Sequencing Panel
method(s): ◦ Sequencing, Capillary (Sanger) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-4 weeks
price: $840.00
Xeroderma Pigmentosum via the POLH Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-5 weeks
price: $990.00
Xeroderma Pigmentosum via the POLH Gene
method(s): ◦ Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA