SPRED1

OMIMHGNC

Synonym(s): FLJ33903, PPP1R147

Locus: 15q14

Protein: Alternative protein SPRED1

 

Disorders

Tests

Test Type
Molecular (92)
Multi-Gene Panel (59)
Multi-Method Panel (45)
Test Method
Del/Dup (CNV) (49)
FISH-Interphase (1)
Linkage Analysis (1)
Mutation Scanning of Entire Coding Region (5)
Sequencing, Capillary (Sanger) (25)
Sequencing, Next Gen (64)
Prenatal/Carrier
Prenatal (36)
Carrier (39)
Lab Location
USA(52)
Spain(12)
Germany(15)
Portugal(2)
Canada(2)
Poland(3)
United Kingdom(1)
Netherlands(1)
Finland(5)
 
Legius Syndrome Test
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) 
Department of Genetics UAB, Medical Genomics Laboratory - Birmingham, AL, USA
TAT: 3-4 weeks
price: contact lab
Neurofibromatosis 1 and Legius syndrome via RNA
method(s): ◦ Del/Dup (CNV) ◦ FISH-Interphase ◦ Linkage Analysis ◦ Sequencing, Capillary (Sanger) 
Department of Genetics UAB, Medical Genomics Laboratory - Birmingham, AL, USA
TAT: 4-6 weeks
price: contact lab
Neurofibromatosis Type 1 and Legius Syndrome NGS Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Department of Genetics UAB, Medical Genomics Laboratory - Birmingham, AL, USA
TAT: 4-6 weeks
price: contact lab
RASopathy NGS panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Department of Genetics UAB, Medical Genomics Laboratory - Birmingham, AL, USA
TAT: 4-6 weeks
price: contact lab
Expanded RASopathy Panel (14 Genes)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine - Cambridge, MA, USA
TAT: 4-6 weeks
price: contact lab
Noonan syndrome panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Department of Genetics UAB, Medical Genomics Laboratory - Birmingham, AL, USA
TAT: 4-6 weeks
price: contact lab
Legius Syndrome (SPRED1 sequence analysis)
method(s): ◦ Sequencing, Capillary (Sanger) 
Children's Hospital of Philadelphia, Division of Genomic Diagnostics - Philadelphia, PA, USA
TAT: 12-13 weeks
price: contact lab
Noonan Syndrome and Related Disorders: Gene Sequencing Panel
method(s):
EGL Genetic Diagnostics, Molecular Genetics Laboratory - Tucker, GA, USA
TAT: 6-7 weeks
price: contact lab
Legius Syndrome: SPRED1 Gene Sequencing
method(s):
EGL Genetic Diagnostics, Molecular Genetics Laboratory - Tucker, GA, USA
TAT: 7-8 weeks
price: contact lab
NGS of 12 genes: BRAF, CBL, HRAS, KRAS, MAP2K1, MAP2K2 NRAS, PTPN11, RAF1, SHOC2, SOS1, SPRED1
method(s): ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Next Gen 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
TAT: 12-13 weeks
price: contact lab
NGS of 90 genes: PSEN1, PSEN2, PTPN11, RAF1, RBM20, RPSA, RYR2, SCN5A, SDHA, SGCD, SHOC2, SLC25A4, SOS1, SPRED1, SYNE1, SYNE2, TAZ, TCAP, TGFB3, TMEM43, TMPO, TNNC1, TNNI3, TNNT2, TPM1, TTN, TTR, VCL ABCC9, ACTC1, ACTN2, ADRB1, ADRB2, ADRB3, AGL, ANK2, AN
method(s): ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Next Gen 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
TAT: 4-5 weeks
price: contact lab
Detection of large deletions and/or duplications in SPRED1 gene by MLPA
method(s): ◦ Del/Dup (CNV) 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
TAT: 13-15 weeks
price: contact lab
NGS of 154 genes, ABCA1, ABCC6, ABCC9, ACTA2, HRAS, ILK, JPH2, JUP, KCNA5, KCND3, KCNE1, KCNE1L, KCNE2, KCNE3, KCNE4, KCNH2, KCNJ11, KCNJ12, KCNJ2, KCNJ3, KCNJ5, KCNJ8, KCNQ1, KCNQ2, KRAS, LAMA4, LAMP2, LDB3, LDLR, LMNA, LPL, LRP6, MAP2K1, MAP2K2, MEF2A..
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: BRAF, CBL, KRAS, MAP2K1, NRAS, PTPN11, RAF1, SHOC2, SOS1, SPRED1.
method(s): ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Next Gen 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
TAT: 6-7 weeks
price: contact lab
Sanger sequencing of the SPRED1 gene
method(s): ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Capillary (Sanger) 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
TAT: 2-4 weeks
price: contact lab
SPRED1 Gene Sequencing and Del/Dup
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Center for Human Genetics and Laboratory Medicine Martinsried, Molecular Genetics - Martinsried, Germany
Legius Syndrome Test
method(s): ◦ Sequencing, Capillary (Sanger) 
Denver Genetics Laboratory at Children's Hospital Colorado - Aurora, CO, USA
Legius Syndrome (Neurofibromatosis Type 1-Like) , Sequencing SPRED1 Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
Noonan Syndrome and Others Related, Panel Massive Sequencing (NGS) 13 Genes
method(s): ◦ Sequencing, Next Gen 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
TAT: ~2 weeks
price: contact lab
Legius Syndrome (SPRED1) Deletion/Duplication
method(s): ◦ Del/Dup (CNV) 
ARUP Laboratories, Molecular Genetics Laboratory - Salt Lake City, UT, USA
TAT: 2-3 weeks
price: contact lab
Legius Syndrome (SPRED1) Sequencing
method(s): ◦ Sequencing, Capillary (Sanger) 
ARUP Laboratories, Molecular Genetics Laboratory - Salt Lake City, UT, USA
TAT: 4-5 weeks
price: contact lab
Legius Syndrome (SPRED1) Sequencing and Deletion/Duplication
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) 
ARUP Laboratories, Molecular Genetics Laboratory - Salt Lake City, UT, USA
TAT: 10-12 weeks
price: contact lab
Noonan Spectrum Disorders Panel, Sequencing, 15 Genes
method(s): ◦ Sequencing, Next Gen 
ARUP Laboratories, Molecular Genetics Laboratory - Salt Lake City, UT, 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
Cardiac Diseases Panel
method(s): ◦ Sequencing, Next Gen 
Genomic Laboratory of the DNA Research Center LTD (Centrum Badań DNA sp z o.o.) - Poznań, Poland
Legius syndrome (sequence analysis of SPRED1 gene)
method(s): ◦ Sequencing, Capillary (Sanger) 
CGC Genetics - Porto, Portugal
TAT: 5-6 weeks
price: contact lab
SPRED1 Gene Sequencing
method(s): ◦ Sequencing, Capillary (Sanger) 
GeneDx - Gaithersburg, MD, USA
TAT: 3-4 weeks
price: contact lab
SPRED1 Del/Dup
method(s): ◦ Del/Dup (CNV) 
GeneDx - Gaithersburg, MD, USA
Neurofibromatosis type 1-like: SPRED1 gene sequence analysis
method(s): ◦ Sequencing, Capillary (Sanger) 
GENETAQ, Molecular Genetics Centre - Malaga, Spain
Legius Syndrome (Neurofibromatosis Type 1-Like), Deletions-Duplications (MLPA) SPRED1 Gene
method(s): ◦ Del/Dup (CNV) 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
SPRED1
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
All Children's Hospital, Johns Hopkins Medicine, Clinical Molecular Genetics Laboratory - St. Petersburg, FL, USA
TAT: 3-4 weeks
price: $1,490.00
Noonan spectrum disorder NGS panel
method(s): ◦ Sequencing, Next Gen 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 2-3 weeks
price: $1,300.00
Noonan spectrum disorder NGS panel
method(s): ◦ Del/Dup (CNV) 
Connective Tissue Gene Tests - Allentown, PA, USA
Legius Syndrome (SPRED1)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) 
MVZ Dortmund Dr. Eberhard and Partner - Dortmund, Germany
Noonan Spectrum Disorders (12 gene panel)
method(s): ◦ Sequencing, Next Gen 
South West Thames Genetics Laboratory, St George's University of London - London, United Kingdom
TAT: 3-5 weeks
price: contact lab
RASopathies
method(s): ◦ Sequencing, Next Gen 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
TAT: 3-5 weeks
price: contact lab
Syndromic Disorders
method(s): ◦ Sequencing, Next Gen 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
TAT: 3-5 weeks
price: contact lab
Legius Syndrome Test
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
TAT: 4-6 weeks
price: contact lab
Familial Tumor Syndromes Panel
method(s): ◦ Sequencing, Next Gen 
CeGaT GmbH - Tübingen, Germany
TAT: 4-6 weeks
price: contact lab
Genetic Disorders with Abnormal Pigmentation Panel
method(s): ◦ Sequencing, Next Gen 
CeGaT GmbH - Tübingen, Germany
TAT: 4-6 weeks
price: contact lab
RASopathies Panel
method(s): ◦ Sequencing, Next Gen 
CeGaT GmbH - Tübingen, Germany
TAT: 8-10 weeks
price: contact lab
NGS RASopathy Panel
method(s): ◦ Sequencing, Next Gen 
Greenwood Genetic Center Diagnostic Laboratories - Greenwood, SC, USA
TAT: 7-10 days
price: contact lab
NewbornDx
method(s): ◦ Sequencing, Next Gen 
Parabase Genomics - Boston, MA, USA
TAT: 4-6 weeks
price: contact lab
Neurofibromatosis NGS Panel
method(s): ◦ Sequencing, Next Gen 
DDC Clinic Molecular Diagnostics Laboratory - Middlefield, OH, USA
TAT: 3 weeks
price: contact lab
Solid Tumor Gene Set
method(s): ◦ Sequencing, Next Gen 
Genomics and Pathology Services, Washington University - St. Louis, MO, USA
TAT: 4-6 weeks
price: contact lab
Somatic Tumor Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
CeGaT GmbH - Tübingen, Germany
TAT: 4-6 weeks
price: contact lab
Noonan Spectrum / Rasopathies
method(s): ◦ Sequencing, Next Gen 
All Children's Hospital, Johns Hopkins Medicine, Clinical Molecular Genetics Laboratory - St. Petersburg, FL, USA
TAT: 2-4 weeks
price: contact lab
Single gene testing SPRED1
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) 
CeGaT GmbH - Tübingen, Germany
Legius Syndrome: SPRED1 Gene Sequencing
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
Noonan Syndrome and Related Disorders: Sequencing Panel
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
Cardiovascular disease panel
method(s): ◦ Sequencing, Next Gen 
Genomic Laboratory of the DNA Research Center LTD (Centrum Badań DNA sp z o.o.) - Poznań, Poland
TAT: 4-6 weeks
price: contact lab
SPRED1 Gene Sequencing
method(s): ◦ Sequencing, Next Gen 
DDC Clinic Molecular Diagnostics Laboratory - Middlefield, OH, USA
TAT: 11-13 weeks
price: $1,880.00
Analysis Lymphedema Genes (NGS panel 36 genes)
method(s): ◦ Sequencing, Next Gen 
Academic Medical Centre, University of Amsterdam, DNA Diagnostics Laboratory - Amsterdam, Netherlands
TAT: 8-10 weeks
price: contact lab
RASopathy/Noonan Spectrum Disorders Panel
method(s): ◦ Sequencing, Next Gen 
Cincinnati Children's Hospital Medical Center, Molecular Genetics Laboratory - Cincinnati, OH, USA
TAT: 2-4 weeks
price: contact lab
Macrocephaly and Overgrowth Syndromes (NextGen Sequencing Panel and Copy Number Analysis; 114 Genes)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA
TAT: 2-4 weeks
price: contact lab
Neurofibromatosis (NextGen Sequencing Panel and Copy Number Analysis; 21 Genes)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA
Neurofibromatosis and Related Disorders , Panel Massive Sequencing (NGS) NF1, NF2, SPRED1 Genes
method(s): ◦ Sequencing, Next Gen 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
TAT: 4-6 Weeks
price: contact lab
Neurofibromatosis NGS Panel
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 4-5 Weeks
price: contact lab
SPRED1
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
Legius syndrome (deletion/duplication analysis of SPRED1 gene)
method(s): ◦ Del/Dup (CNV) 
CGC Genetics - Porto, Portugal
TAT: 3-4 weeks
price: $2,640.00
Noonan spectrum disorder NGS panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 3-4 weeks
price: contact lab
Comprehensive Epilepsy Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 2-3 weeks
price: contact lab
Legius Syndrome
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Ambry Genetics Corp, Ambry Genetics - Aliso Viejo, CA, USA
TAT: 3-4 weeks
price: $690.00
Legius Syndrome via the SPRED1 Gene
method(s): ◦ Del/Dup (CNV) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-4 weeks
price: $960.00
Neurofibromatosis Type 1 and Legius Syndrome 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: $650.00
Legius Syndrome via the SPRED1 Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-5 weeks
price: $1,440.00
Neurofibromatosis Type 1 and Legius Syndrome Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 10-12 weeks
price: $1,290.00
ExonMIN RASopathies
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
NIMGenetics Genomics & Medicine. (New Integrated Medical Genetics). - Madrid, Spain
TAT: ~2 weeks
price: contact lab
Legius syndrome
method(s): ◦ Sequencing, Capillary (Sanger) 
Centogene AG, Rare Disease Company - Rostock, Germany
TAT: 2-4 weeks
price: $1,270.00
Neurofibromatosis and related disorders NGS panel
method(s): ◦ Sequencing, Next Gen 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 2-4 weeks
price: $990.00
Neurofibromatosis and related disorders NGS panel
method(s): ◦ Del/Dup (CNV) 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 2-4 weeks
price: $2,110.00
Neurofibromatosis and related disorders NGS panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: ~2 weeks
price: contact lab
Neurofibromatosis type 1 -like syndrome
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Centogene AG, Rare Disease Company - Rostock, Germany
TAT: 2-3 weeks
price: contact lab
Rasopathy Gene Set
method(s): ◦ Sequencing, Next Gen 
Genomics and Pathology Services, Washington University - St. Louis, MO, USA
TAT: 2-3 weeks
price: contact lab
CentoICU Platinum
method(s): ◦ Sequencing, Next Gen 
Centogene AG, Rare Disease Company - Rostock, Germany
Phosphorus Hypertrophic Cardiomyopathy Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Phosphorus Diagnostics - Secaucus, NJ, USA
TAT: 3-4 weeks
price: contact lab
Phosphorus Pan Cardiomyopathy Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Phosphorus Diagnostics - Secaucus, NJ, USA
Phosphorus Pan Arrhythmia and Cardiomyopathy Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Phosphorus Diagnostics - Secaucus, NJ, USA
TAT: 1-3 weeks
price: $1,500.00
Invitae Overgrowth and Macrocephaly Syndromes Panel
method(s): ◦ Sequencing, Next Gen ◦ Del/Dup (CNV) 
Invitae - San Francisco, CA, USA
TAT: 1-3 weeks
price: $1,500.00
Invitae RASopathies Comprehensive Panel
method(s): ◦ Sequencing, Next Gen ◦ Del/Dup (CNV) 
Invitae - San Francisco, CA, USA
TAT: 1-3 weeks
price: $1,500.00
Invitae Legius Syndrome Test
method(s): ◦ Sequencing, Next Gen ◦ Del/Dup (CNV) 
Invitae - San Francisco, CA, USA
TAT: 4-5 weeks
price: contact lab
Neurofibromatosis panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Centogene AG, Rare Disease Company - Rostock, Germany
TAT: 4-5 weeks
price: contact lab
Noonan - CFC syndrome panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Centogene AG, Rare Disease Company - Rostock, Germany
TAT: 3-4 weeks
price: contact lab
Comprehensive Cardiology Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics, Helsinki - Helsinki, Finland
TAT: 3-4 weeks
price: contact lab
Comprehensive Skeletal / Malformation Syndrome Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics, Helsinki - Helsinki, Finland
TAT: 3-4 weeks
price: contact lab
Neurofibromatosis Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics, Helsinki - Helsinki, Finland
TAT: 3-4 weeks
price: contact lab
Noonan Syndrome Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics, Helsinki - Helsinki, Finland
TAT: 3-4 weeks
price: contact lab
Cardiomyopathy Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics, Helsinki - Helsinki, Finland
TAT: 3-4 weeks
price: contact lab
Comprehensive Cardiology Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics, San Francisco - San Francisco, CA, USA
TAT: 3-4 weeks
price: contact lab
Comprehensive Skeletal / Malformation Syndrome Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics, San Francisco - San Francisco, CA, USA
TAT: 3-4 weeks
price: contact lab
Neurofibromatosis Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics, San Francisco - San Francisco, CA, USA
TAT: 3-4 weeks
price: contact lab
Noonan Syndrome Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics, San Francisco - San Francisco, CA, USA
TAT: 3-4 weeks
price: contact lab
Cardiomyopathy Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics, San Francisco - San Francisco, CA, USA