BSCL2

OMIMHGNC

Synonym(s): GNG3LG, SPG17

Locus: 11q13

Protein: Truncated seipin

 

Disorders

Tests

Test Type
Molecular (57)
Panel (41)
Test Method
Del/Dup (CNV) (12)
Mutation Scanning of Select Exons (1)
Mutation Scanning of Entire Coding Region (4)
Sequencing, Capillary (Sanger) (11)
Sequencing, Next Gen (44)
Prenatal/Carrier
Prenatal (7)
Carrier (24)
Lab Location
USA(28)
Spain(10)
Portugal(4)
Germany(10)
United Kingdom(2)
Poland(2)
Greece(1)
 
TAT: 12-13 weeks
price: contact lab
Expanded Neuromuscular Disorders: Sequencing and Deletion/Duplication Panel
method(s):
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
TAT: 4-6 weeks
price: $1,440.00
Congenital Generalized Lipodystrophy Types 1 and 2 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: $780.00
Seipin-Related Disorders via the BSCL2 Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 5-7 weeks
price: $2,440.00
Distal Hereditary Motor Neuropathy NextGen Sequencing (NGS) Panel
method(s): ◦ Sequencing, Next Gen 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-5 weeks
price: $1,190.00
Congenital Generalized Lipodystrophy Types 1 and 2 Deletion/Duplication Panel
method(s): ◦ Del/Dup (CNV) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-5 weeks
price: $990.00
Seipin-Related Disorders via the BSCL2 Gene
method(s): ◦ Del/Dup (CNV) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-5 weeks
price: $2,290.00
Distal Hereditary Motor Neuropathy Deletion/Duplication Panel
method(s): ◦ Del/Dup (CNV) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 7-8 weeks
price: contact lab
NGS of 6 genes: BSCL2 , DCTN1, GARS, HSPB1, HSPB8, REEP1
method(s): ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Next Gen 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
TAT: 7-8 weeks
price: contact lab
NGS of 10 genes: ATL1, BSCL2, HSPD1, KIAA0196, KIF5A, NIPA1, REEP1, SLC33A1, SPAST, ZFYVE27
method(s): ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Next Gen 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
TAT: 9-10 weeks
price: contact lab
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): ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Next Gen 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
TAT: 5-6 weeks
price: contact lab
Sanger sequencing of the BSCL2 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
Charcot-Marie Tooth/ Inherited peripheral neuropathies
method(s): ◦ Sequencing, Capillary (Sanger) 
Bristol Genetics Laboratory - Bristol, United Kingdom
TAT: >20 weeks
price: contact lab
Gene panel testing for Charcot-Marie Tooth/ Inherited peripheral neuropathies
method(s): ◦ Sequencing, Next Gen 
Bristol Genetics Laboratory - Bristol, United Kingdom
TAT: 7-8 weeks
price: contact lab
Ataxia Exome Panel
method(s): ◦ Sequencing, Next Gen 
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA
TAT: 8-9 weeks
price: contact lab
Comprehensive Lipodystrophy Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA
TAT: 8-9 weeks
price: contact lab
Congenital Generalized Lipodystrophy Sequencing panel
method(s): ◦ Sequencing, Next Gen 
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA
TAT: 10 weeks
price: contact lab
Hereditary Neuropathy Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
GeneDx - Gaithersburg, MD, USA
Charcot-Marie-Tooth Disease, Panel Massive Sequencing (NGS) 32 Genes
method(s): ◦ Sequencing, Next Gen 
Reference Laboratory Genetics - Barcelona, Spain
TAT: 2-3 weeks
price: $1,500.00
BSCL2-related neurologic disorders
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Invitae - San Francisco, CA, USA
TAT: 2-3 weeks
price: $1,500.00
Berardinelli-Seip congenital lipodystrophy, type 2
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Invitae - San Francisco, CA, USA
TAT: 2-3 weeks
price: $1,500.00
Charcot-Marie-Tooth disease, type 2
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Invitae - San Francisco, CA, USA
TAT: 2-3 weeks
price: $1,500.00
Distal hereditary motor neuropathy, type V
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Invitae - San Francisco, CA, USA
TAT: 2-3 weeks
price: $1,500.00
Hereditary spastic paraplegia, complicated
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Invitae - San Francisco, CA, USA
TAT: 2-3 weeks
price: $1,500.00
Charcot-Marie-Tooth disease, autosomal dominant
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Invitae - San Francisco, CA, USA
TAT: 2-3 weeks
price: $1,500.00
Charcot-Marie-Tooth disease, full panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Invitae - San Francisco, CA, USA
TAT: 2-3 weeks
price: $1,500.00
Hereditary spastic paraplegia, full panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Invitae - San Francisco, CA, USA
Autosomal Dominant Familial Spastic Paraplegia , Panel Massive Sequencing (NGS) 10 Genes
method(s): ◦ Sequencing, Next Gen 
Reference Laboratory Genetics - Barcelona, Spain
Familial Spastic Paraplegia Type 17 , Sequencing Exon 3 BSCL2 Gene
method(s): ◦ Mutation Scanning of Select Exons 
Reference Laboratory Genetics - Barcelona, Spain
Familial Spastic Paraplegia Type 17 , Sequencing BSCL2 Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
Reference Laboratory Genetics - Barcelona, Spain
Neurodegenerative Diseases Panel
method(s): ◦ Sequencing, Next Gen 
Genomic Laboratory of the DNA Research Center LTD (Centrum Badań DNA sp z o.o.) - Poznań, Poland
Neuromuscular Diseases Panel
method(s): ◦ Sequencing, Next Gen 
Genomic Laboratory of the DNA Research Center LTD (Centrum Badań DNA sp z o.o.) - Poznań, Poland
Spastic paraplegia 17 (SPG17, sequence analysis of BSCL2 gene)
method(s): ◦ Sequencing, Capillary (Sanger) 
CGC Genetics - Porto, Portugal
Lipodystrophy, congenital Berardinelli-Seip type 2 (sequence analysis of BSCL2 gene)
method(s): ◦ Sequencing, Capillary (Sanger) 
CGC Genetics - Porto, Portugal
Spastic paraplegia, AD types 3A, 4, 6, 8, 10 and 13 - 10 genes (NGS panel for ATL1, BSCL2, HSPD1, KIAA0196, KIF5A, NIPA1, REEP1, SLC33A1, SPAST and ZFYVE27 genes)
method(s): ◦ Sequencing, Next Gen 
CGC Genetics - Porto, Portugal
Syndromic and nonsyndromic paraplegias (NGS panel for 27 genes)
method(s): ◦ Sequencing, Next Gen 
CGC Genetics - Porto, Portugal
TAT: 8-9 weeks
price: contact lab
Axonal CMT Panel
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
GeneDx - Gaithersburg, MD, USA
Neuronopathy, Distal Hereditary Motor, Type V: BSCL2 gene sequence analysis
method(s): ◦ Sequencing, Capillary (Sanger) 
GENETAQ, Molecular Genetics Centre - Malaga, Spain
TAT: 2 Weeks
price: contact lab
BSCL2
method(s): ◦ Sequencing, Next Gen 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 4-6 Weeks
price: contact lab
Charcot Marie Tooth Disease Extended
method(s): ◦ Sequencing, Next Gen 
Fulgent Diagnostics - Temple City, CA, USA
Clinical Exome
method(s): ◦ Sequencing, Next Gen 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 4-6 Weeks
price: contact lab
Congenital Generalized Lipodystrophy
method(s): ◦ Sequencing, Next Gen 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 4-6 Weeks
price: contact lab
Distal Hereditary Motor Neuropathy
method(s): ◦ Sequencing, Next Gen 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 4-6 Weeks
price: contact lab
Lipodystrophy
method(s): ◦ Sequencing, Next Gen 
Fulgent Diagnostics - Temple City, CA, USA
Single Gene
method(s): ◦ Sequencing, Next Gen 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 4-6 Weeks
price: contact lab
Spastic Paraplegia
method(s): ◦ Sequencing, Next Gen 
Fulgent Diagnostics - Temple City, CA, USA
Spastic Paraplegia A.D.
method(s): ◦ Sequencing, Next Gen 
GENETAQ, Molecular Genetics Centre - Malaga, Spain
TAT: 5-6 weeks
price: contact lab
Hereditary Spastic Paraplegias (HSP) Multi-Gene NGS Panel
method(s): ◦ Sequencing, Next Gen 
InterGenetics - Diagnostic Genetic Center - Athens, Greece
TAT: 7-8 weeks
price: contact lab
Neuropathy, Motor and Sensory – Axonal
method(s): ◦ Sequencing, Next Gen 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
TAT: 7-8 weeks
price: contact lab
Neuropathy, Motor - Distal Motor Neuropathy (dHMN) – Distal SMA
method(s): ◦ Sequencing, Next Gen 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
TAT: 7-8 weeks
price: contact lab
Neuropathy Plus, Complex Phenotypes
method(s): ◦ Sequencing, Next Gen 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
TAT: 7-8 weeks
price: contact lab
Amyotrophic Lateral Sclerosis (ALS) and Phenocopies
method(s): ◦ Sequencing, Next Gen 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
TAT: 7-8 weeks
price: contact lab
Neuropathy
method(s): ◦ Sequencing, Next Gen 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
TAT: 7-8 weeks
price: contact lab
Hereditary Spastic Paraplegia (HSP)
method(s): ◦ Sequencing, Next Gen 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
TAT: 3-5 weeks
price: contact lab
Berardinelli-Seip Congenital Lipodystrophy Type 2 Test
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
TAT: 3-5 weeks
price: contact lab
BSCL2-Related Neurologic Disorders/Seipinopathy Test
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
TAT: 8-10 weeks
price: contact lab
Neuropathy - Ataxia / Spasticity Panel
method(s): ◦ Sequencing, Next Gen 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
TAT: 8-10 weeks
price: contact lab
Neuropathy Multi-Gene Panel
method(s): ◦ Sequencing, Next Gen 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany

Ads how to advertise with us