BSCL2

OMIMHGNC

Synonym(s): GNG3LG, SPG17

Locus: 11q13

Protein: Truncated seipin

 

Disorders

Filter By:

Test Type
Molecular
Cytogenetic
Panel
Test Method
Sequencing, Next Gen
Sequencing, Capillary (Sanger)
Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.)
Mutation Scanning of Entire Coding Region
Prenatal/Carrier
Prenatal
Carrier
Lab Location
Germany
Spain
United Kingdom
USA

Tests

Test Details Laboratory
Ataxia Exome Panelmethod(s):
◦ Sequencing, Next Gen

TAT: 12-16 weeks
price: contact lab
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA
BSCL2 Sequencingmethod(s):
◦ Sequencing, Capillary (Sanger)

TAT: 3-4 weeks
price: contact lab
Center for Nephrology and Metabolic Disorders, Laboratory for Molecular Diagnostics - Weisswasser, Germany
Charcot-Marie Tooth/ Inherited peripheral neuropathiesmethod(s):
◦ Sequencing, Capillary (Sanger)

TAT: 8-9 weeks
price: contact lab
Bristol Genetics Laboratory, Southmead Hospital, North Bristol NHS Trust - Bristol, United Kingdom
Charcot-Marie-Tooth Disease, Panel Massive Sequencing (NGS) 32 Genesmethod(s):
◦ Sequencing, Next Gen

TAT: contact lab
price: contact lab
Reference Laboratory Genetics - Barcelona, Spain
Comprehensive Lipodystrophy Sequencing Panelmethod(s):
◦ Sequencing, Next Gen

TAT: 8-10 weeks
price: contact lab
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA
Congenital Generalized Lipodystrophy Sequencing panelmethod(s):
◦ Sequencing, Next Gen

TAT: 8-10 weeks
price: contact lab
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA
Congenital Generalized Lipodystrophy Types 1 and 2 Deletion/Duplication Panelmethod(s):
◦ Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.)

TAT: 3-5 weeks
price: $1,190.00
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
Congenital Generalized Lipodystrophy Types 1 and 2 Sanger Sequencing Panelmethod(s):
◦ Sequencing, Capillary (Sanger)

TAT: 4-6 weeks
price: $1,440.00
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
Distal Hereditary Motor Neuropathy Deletion/Duplication Panelmethod(s):
◦ Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.)

TAT: 3-5 weeks
price: $2,290.00
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
Distal Hereditary Motor Neuropathy NextGen Sequencing (NGS) Panelmethod(s):
◦ Sequencing, Next Gen

TAT: 5-7 weeks
price: $2,440.00
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
Expanded Neuromuscular Disorders: Sequencing and Deletion/Duplication Panelmethod(s):

TAT: 12-13 weeks
price: contact lab
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
Gene panel testing for Charcot-Marie Tooth/ Inherited peripheral neuropathiesmethod(s):
◦ Sequencing, Next Gen

TAT: >20 weeks
price: contact lab
Bristol Genetics Laboratory, Southmead Hospital, North Bristol NHS Trust - Bristol, United Kingdom
Hereditary Neuropathy Panelmethod(s):
◦ Sequencing, Next Gen
◦ Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.)

TAT: 10 weeks
price: contact lab
GeneDx - Gaithersburg, MD, USA
Lipodystrophy NGS Panelmethod(s):
◦ Sequencing, Next Gen

TAT: 4-6 weeks
price: contact lab
Fulgent Diagnostics - Temple City, CA, USA
Neuropathy - Ataxia / Spasticity Panelmethod(s):
◦ Sequencing, Next Gen

TAT: 8-10 weeks
price: contact lab
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
Neuropathy Multi-Gene Panelmethod(s):
◦ Sequencing, Next Gen

TAT: 8-10 weeks
price: contact lab
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
NGS of 10 genes: ATL1, BSCL2, HSPD1, KIAA0196, KIF5A, NIPA1, REEP1, SLC33A1, SPAST, ZFYVE27method(s):
◦ Sequencing, Next Gen
◦ Mutation Scanning of Entire Coding Region

TAT: 7-8 weeks
price: contact lab
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
NGS of 27 genes: ALS2, AP5Z1, ATL1, BSCL2, CCT5, CYP7B1, FA2H, GJC2, HSPD1, KDM5C, KIAA0196, KIF1A, KIF5A, L1CAM, NIPA1, PLP1, PNPLA6, REEP1, SLC16A2, SLC33A1, SPAST, SPG7, SPG11, SPG20, SPG21, ZFYVE26, ZFYVE27.method(s):
◦ Sequencing, Next Gen
◦ Mutation Scanning of Entire Coding Region

TAT: 9-10 weeks
price: contact lab
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
NGS of 6 genes: BSCL2 , DCTN1, GARS, HSPB1, HSPB8, REEP1method(s):
◦ Sequencing, Next Gen
◦ Mutation Scanning of Entire Coding Region

TAT: 7-8 weeks
price: contact lab
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
Sanger sequencing of the BSCL2 genemethod(s):
◦ Mutation Scanning of Entire Coding Region
◦ Sequencing, Capillary (Sanger)

TAT: 5-6 weeks
price: contact lab
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
Seipin-Related Disorders via the BSCL2 Genemethod(s):
◦ Sequencing, Capillary (Sanger)

TAT: 3-4 weeks
price: $780.00
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
Seipin-Related Disorders via the BSCL2 Genemethod(s):
◦ Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.)

TAT: 3-5 weeks
price: $990.00
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
Spastic Paraplegia NGS Panelmethod(s):
◦ Sequencing, Next Gen

TAT: 4-6 weeks
price: contact lab
Fulgent Diagnostics - Temple City, CA, USA