MLPH

OMIMHGNC

Synonym(s): l1Rk3, l(1)-3Rk, Slac-2a, ln, exophilin-3

Locus: 2q37.3

Protein: Putative uncharacterized protein MLPH

 

Disorders

Tests

Test Type
Molecular (10)
Multi-Gene Panel (7)
Multi-Method Panel (3)
Test Method
Del/Dup (CNV) (4)
Mutation Scanning of Entire Coding Region (1)
Sequencing, Capillary (Sanger) (2)
Sequencing, Next Gen (8)
Prenatal/Carrier
Prenatal (2)
Carrier (5)
Lab Location
Portugal(1)
USA(3)
Spain(1)
Poland(1)
Germany(4)
 
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
TAT: 6-8 weeks
price: contact lab
Albinism Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA
TAT: 4-6 weeks
price: contact lab
Albinism Deletion/Duplication panel
method(s): ◦ Del/Dup (CNV) 
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA
TAT: 4-6 weeks
price: contact lab
Genetic Disorders with Abnormal Pigmentation Panel
method(s): ◦ Sequencing, Next Gen 
CeGaT GmbH - Tübingen, Germany
Griscelli syndrome type 3 (sequence analysis of MLPH gene)
method(s): ◦ Sequencing, Next Gen 
CGC Genetics - Porto, Portugal
TAT: 4-6 weeks
price: contact lab
Defects of Phagocytosis Panel
method(s): ◦ Sequencing, Next Gen 
CeGaT GmbH - Tübingen, Germany
TAT: 4-5 Weeks
price: contact lab
MLPH
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
TAT: ~2 weeks
price: contact lab
Griscelli syndrome type 3
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Centogene AG, Rare Disease Company - Rostock, Germany
TAT: 4-5 weeks
price: contact lab
Albinism panel
method(s): ◦ Del/Dup (CNV) ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Next Gen 
Centogene AG, Rare Disease Company - Rostock, Germany
Griscelli Syndrome , Panel Massive Sequencing (NGS) MLPH, MYO5A, RAB27A Genes
method(s): ◦ Sequencing, Next Gen 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain