SALL1

OMIMHGNC

Synonym(s): Hsal1, ZNF794, TBS

Locus: 16q12.1

Protein: Sal-like protein 1

 

Disorders

Tests

Test Type
Molecular (33)
Cytogenetic (1)
Multi-Gene Panel (18)
Multi-Method Panel (9)
Test Method
Del/Dup (CNV) (11)
Mutation Scanning of Entire Coding Region (1)
Sequencing, Capillary (Sanger) (14)
Genotyping (Microarray, Beads, etc.) (1)
Sequencing, Next Gen (14)
Prenatal/Carrier
Prenatal (13)
Carrier (13)
Lab Location
Spain(3)
USA(18)
Poland(1)
Portugal(2)
Germany(4)
Korea, Republic of(1)
United Kingdom(1)
Canada(4)
 
Townes Brocks syndrome test
method(s): ◦ Sequencing, Capillary (Sanger) 
Medical Genetics Center, Asan Medical Center - Seoul, Korea, Republic of
TAT: 12-13 weeks
price: contact lab
Skeletal Dysplasia: Sequencing Panel
method(s):
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
TAT: 12-13 weeks
price: contact lab
Limb Malformation: Sequencing Panel
method(s):
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
TAT: 12-13 weeks
price: contact lab
Hearing Loss: Sequencing Panel
method(s):
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
TAT: 6-7 weeks
price: contact lab
Sanger sequencing of the SALL1 gene
method(s): ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Capillary (Sanger) 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
TAT: 16-20 weeks
price: contact lab
Chromosome Breakage Disorders NGS Panel
method(s): ◦ Sequencing, Next Gen 
Bristol Genetics Laboratory - Bristol, United Kingdom
TAT: 7-8 weeks
price: contact lab
Congenital anomalies of kidney and urinary tract (CAKUT) Multi-Gene Panels
method(s): ◦ Sequencing, Next Gen 
Center for Human Genetics and Laboratory Medicine Martinsried, Molecular Genetics - Martinsried, Germany
TAT: 2-3 weeks
price: contact lab
Prenatal SALL1 Gene Sequencing
method(s): ◦ Sequencing, Capillary (Sanger) 
GeneDx - Gaithersburg, MD, USA
TAT: 3-4 weeks
price: contact lab
SALL1 Del/Dup
method(s): ◦ Del/Dup (CNV) 
GeneDx - Gaithersburg, MD, USA
TAT: 8-10 weeks
price: contact lab
SALL1 Gene Sequencing
method(s): ◦ Sequencing, Capillary (Sanger) 
GeneDx - Gaithersburg, MD, USA
Townes-Brocks Syndrome Test (the SALL1 gene - R276X mutation)
method(s): ◦ Sequencing, Capillary (Sanger) 
GENESIS Center for Medical Genetics, Laboratory of Molecular Genetics - Poznan, Poland
Townes-Brocks Syndrome , Sequencing SALL1 Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
Townes-Brocks syndrome (sequence analysis of SALL1 gene)
method(s): ◦ Sequencing, Capillary (Sanger) 
CGC Genetics - Porto, Portugal
Townes-Brocks syndrome (deletion/duplication analysis on SALL1 gene)
method(s): ◦ Del/Dup (CNV) ◦ Genotyping (Microarray, Beads, etc.) 
CGC Genetics - Porto, Portugal
TAT: 7-10 days
price: contact lab
NewbornDx
method(s): ◦ Sequencing, Next Gen 
Parabase Genomics - Boston, MA, USA
TAT: 2-4 weeks
price: contact lab
Single gene testing SALL1
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) 
CeGaT GmbH - Tübingen, Germany
Limb Malformation: Sequencing Panel
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
Limb Malformation: Deletion/Duplication Panel
method(s): ◦ Del/Dup (CNV) 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
Skeletal Dysplasia: Sequencing Panel
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
Skeletal Dysplasia: Deletion/Duplication Panel
method(s): ◦ Del/Dup (CNV) 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
TAT: 4-6 weeks
price: contact lab
Selected Genetic Syndromes with skeletal involvement Panel
method(s): ◦ Sequencing, Next Gen 
CeGaT GmbH - Tübingen, Germany
TAT: 11-12 weeks
price: $2,000.00
KidneySeq - A Comprehensive Inherited Kidney Disease Panel
method(s): ◦ Sequencing, Next Gen 
Iowa Institute of Human Genetcs (IIHG) - Iowa City, IA, USA
Townes-Brocks Syndrome, Deletions-Duplications (MLPA) SALL1 Gene
method(s): ◦ Del/Dup (CNV) 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
TAT: 8-9 weeks
price: contact lab
Abnormal/Ambiguous Genitalia Sequencing Test
method(s): ◦ Sequencing, Next Gen 
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA
TAT: 4-5 Weeks
price: contact lab
SALL1
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 4-6 Weeks
price: contact lab
Skeletal Dysplasias NGS Panel
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 7-8 weeks
price: contact lab
Renal Cystic Disorders Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA
TAT: 8-9 weeks
price: contact lab
Hypospadias Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA
TAT: 3-4 weeks
price: $690.00
Townes-Brocks Syndrome via the SALL1 Gene
method(s): ◦ Del/Dup (CNV) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-4 weeks
price: $1,290.00
Congenital Abnormalities of the Kidney and Urinary Tract (CAKUT) 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: $890.00
Townes-Brocks Syndrome via the SALL1 Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-5 weeks
price: $2,690.00
Congenital Abnormalities of the Kidney and Urinary Tract (CAKUT) 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
Townes-Brocks syndrome
method(s): ◦ Sequencing, Capillary (Sanger) 
Centogene AG, Rare Disease Company - Rostock, Germany
TAT: 1-3 weeks
price: $1,500.00
Invitae Townes-Brocks Syndrome Test
method(s): ◦ Sequencing, Next Gen ◦ Del/Dup (CNV) 
Invitae - San Francisco, CA, USA