PNPLA1

OMIMHGNC

Synonym(s): FLJ38755, dJ50J22.1

Locus: 6p21.31

Protein: Patatin-like phospholipase domain-containing protein 1

 

Disorders

Tests

Test Type
Molecular (19)
Multi-Gene Panel (13)
Multi-Method Panel (4)
Test Method
Del/Dup (CNV) (7)
Sequencing, Capillary (Sanger) (4)
Sequencing, Next Gen (13)
Prenatal/Carrier
Prenatal (11)
Carrier (11)
Lab Location
Portugal(1)
USA(10)
Germany(5)
Spain(2)
Poland(1)
 
TAT: 10 weeks
price: contact lab
Congenital Ichthyosis XomeDxSlice
method(s): ◦ Sequencing, Next Gen 
GeneDx - Gaithersburg, MD, USA
TAT: 2-3 weeks
price: $1,300.00
Ichthyosis NGS panel - Nonsyndromic
method(s): ◦ Del/Dup (CNV) 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 3-4 weeks
price: $2,720.00
Ichthyosis NGS panel - Nonsyndromic
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 3-4 weeks
price: $1,570.00
Ichthyosis NGS panel - Nonsyndromic
method(s): ◦ Sequencing, Next Gen 
Connective Tissue Gene Tests - Allentown, PA, USA
Skin Diseases Panel
method(s): ◦ Sequencing, Next Gen 
Genomic Laboratory of the DNA Research Center LTD (Centrum Badań DNA sp z o.o.) - Poznań, Poland
Congenital Ichthyosis, Panel Massive Sequencing (NGS) 33 Genes
method(s): ◦ Sequencing, Next Gen 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
Ichthyosis (Congenital)
method(s): ◦ Sequencing, Next Gen 
GENETAQ, Molecular Genetics Centre - Malaga, Spain
TAT: 4-6 weeks
price: contact lab
Ichthyoses and Related Disorders of Cornification Panel
method(s): ◦ Sequencing, Next Gen 
CeGaT GmbH - Tübingen, Germany
TAT: 7-10 days
price: contact lab
NewbornDx
method(s): ◦ Sequencing, Next Gen 
Parabase Genomics - Boston, MA, USA
Ichthyosis, congenital, AR 10 (sequence analysis of PNPLA1 gene)
method(s): ◦ Sequencing, Capillary (Sanger) 
CGC Genetics - Porto, Portugal
TAT: 4-5 Weeks
price: contact lab
PNPLA1
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 3-4 weeks
price: $690.00
Autosomal Recessive Congenital Ichthyosis (ARCI) via the PNPLA1 Gene
method(s): ◦ Del/Dup (CNV) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-4 weeks
price: $840.00
Congenital Ichthyosis and Related Disorders Deletion/Duplication Panel
method(s): ◦ Del/Dup (CNV) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 2-3 weeks
price: $750.00
Autosomal Recessive Congenital Ichthyosis (ARCI) via the PNPLA1 Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-5 weeks
price: $1,990.00
Congenital Ichthyosis and Related Disorders Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: ~2 weeks
price: contact lab
Ichthyosis congenital, autosomal recessive, PNPLA1 related
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Centogene AG, Rare Disease Company - Rostock, Germany
TAT: 2-3 weeks
price: contact lab
CentoICU Platinum
method(s): ◦ Sequencing, Next Gen 
Centogene AG, Rare Disease Company - Rostock, Germany
TAT: 4-5 weeks
price: contact lab
Congenital ichthyosis panel
method(s): ◦ Sequencing, Next Gen 
Centogene AG, Rare Disease Company - Rostock, Germany
TAT: 4-5 weeks
price: contact lab
Ichthyosis extended panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Centogene AG, Rare Disease Company - Rostock, Germany