NFIX

OMIMHGNC

Synonym(s): NF1A

Locus: 19p13.13

Protein: Nuclear factor 1 X-type

 

Disorders

Tests

Test Type
Molecular (52)
Multi-Gene Panel (35)
Multi-Method Panel (22)
Test Method
Del/Dup (CNV) (26)
Methylation Analysis (2)
Sequencing, Capillary (Sanger) (9)
Repeat Expansion / Contraction (1)
Sequencing, Next Gen (39)
Prenatal/Carrier
Prenatal (26)
Carrier (30)
Lab Location
USA(29)
Germany(8)
Portugal(2)
Spain(4)
Poland(2)
Canada(3)
Austria(1)
Finland(3)
 
TAT: 12-13 weeks
price: contact lab
Macrocephaly: Sequencing Panel
method(s):
EGL Genetic Diagnostics, Molecular Genetics Laboratory - Tucker, GA, USA
TAT: 4 weeks
price: contact lab
NFIX sequencing
method(s): ◦ Sequencing, Next Gen 
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA
TAT: 13-15 weeks
price: contact lab
Syndromic Macrocephaly/Overgrowth Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
GeneDx - Gaithersburg, MD, USA
Brain Development Disorders Panel
method(s): ◦ Sequencing, Next Gen 
Genomic Laboratory of the DNA Research Center LTD (Centrum Badań DNA sp z o.o.) - Poznań, Poland
Epilepsy 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
Macrocephaly Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA
TAT: 4-6 weeks
price: contact lab
Macrocephaly Deletion/Duplication panel
method(s): ◦ Del/Dup (CNV) 
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA
TAT: 3-5 weeks
price: contact lab
Brain Malformations / Neuronal Migration Disorders
method(s): ◦ Sequencing, Next Gen 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
TAT: 3-5 weeks
price: contact lab
Macrocephaly
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
NFIX
method(s): ◦ Sequencing, Capillary (Sanger) 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
TAT: 4-6 weeks
price: contact lab
Macrocephaly Panel
method(s): ◦ Sequencing, Next Gen 
CeGaT GmbH - Tübingen, Germany
TAT: 4-6 weeks
price: contact lab
Overgrowth and Intellectual Disability NGS Panel
method(s): ◦ Sequencing, Next Gen 
DDC Clinic Molecular Diagnostics Laboratory - Middlefield, OH, USA
Macrocephaly (NGS panel for 16 genes)
method(s): ◦ Sequencing, Next Gen 
CGC Genetics - Porto, Portugal
Sotos syndrome 2 (sequence analysis of NFIX gene)
method(s): ◦ Sequencing, Next Gen 
CGC Genetics - Porto, Portugal
TAT: 2-4 weeks
price: contact lab
Single gene testing NFIX
method(s): ◦ Sequencing, Capillary (Sanger) 
CeGaT GmbH - Tübingen, Germany
Macrocephaly and Overgrowth Syndromes: Sequencing and Beckwith-Wiedemann Syndrome Methylation Panel
method(s): ◦ Methylation Analysis ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
Macrocephaly and Overgrowth Syndromes: Deletion/Duplication Panel
method(s): ◦ Del/Dup (CNV) 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
TAT: 2-3 weeks
price: contact lab
Overgrowth syndrome NGS panel
method(s): ◦ Del/Dup (CNV) 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 2-4 weeks
price: contact lab
Overgrowth syndrome NGS panel
method(s): ◦ Sequencing, Next Gen 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 2-4 weeks
price: contact lab
Overgrowth syndrome NGS panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 2-3 weeks
price: contact lab
Sotos syndrome 2 (SOTOS2)
method(s): ◦ Del/Dup (CNV) 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 2-3 weeks
price: contact lab
Sotos syndrome 2 (SOTOS2)
method(s): ◦ Sequencing, Next Gen 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 2-3 weeks
price: contact lab
Sotos syndrome 2 (SOTOS2)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 2-3 weeks
price: contact lab
Marshall-Smith syndrome (MRSHSS)
method(s): ◦ Del/Dup (CNV) 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 2-3 weeks
price: contact lab
Marshall-Smith syndrome (MRSHSS)
method(s): ◦ Sequencing, Next Gen 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 2-3 weeks
price: contact lab
Marshall-Smith syndrome (MRSHSS)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Connective Tissue Gene Tests - Allentown, PA, USA
Marshall-Smith Syndrome, Sequencing NFIX Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
TAT: 8-10 weeks
price: contact lab
NGS Overgrowth/Macrocephaly Panel
method(s): ◦ Sequencing, Next Gen 
Greenwood Genetic Center Diagnostic Laboratories - Greenwood, SC, USA
TAT: 4-6 weeks
price: contact lab
NFIX Gene Sequencing
method(s): ◦ Sequencing, Next Gen 
DDC Clinic Molecular Diagnostics Laboratory - Middlefield, OH, USA
TAT: 2-4 weeks
price: contact lab
Comprehensive Intellectual Disability (NextGen Sequencing Panel and Copy Number Analysis; 733 Genes)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA
TAT: 2-4 weeks
price: contact lab
Syndromic Intellectual Disability (NextGen Sequencing Panel and Copy Number Analysis; 577 genes)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, 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
Comprehensive Neuronal Migration Disorders (NextGen Sequencing Panel and Copy Number Analysis; 109 genes + mtDNA)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA
TAT: 2-4 weeks
price: contact lab
Non-Mitochondrial Neuronal Migration Disorders (NextGen Sequencing Panel and Copy Number Analysis; 99 genes)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA
Macrocephaly, Panel Massive Sequencing (NGS) 16 Genes
method(s): ◦ Sequencing, Next Gen 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
TAT: 4-5 Weeks
price: contact lab
NFIX
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
Sotos syndrome (Sotos Syndrom)
method(s): ◦ Sequencing, Capillary (Sanger) 
Praxis fuer Humangenetik Wien - Vienna, Austria
TAT: ~2 weeks
price: contact lab
Sotos-like syndrome
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Centogene AG, Rare Disease Company - Rostock, Germany
Macrocephaly and Overgrowth Syndromes: Sequencing Panel
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
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: 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
Macrocephaly / Overgrowth Syndrome Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics, Helsinki - Helsinki, Finland
TAT: 3-4 weeks
price: contact lab
Comprehensive Skeletal Dysplasias and Disorders 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, San Francisco - San Francisco, CA, USA
TAT: 3-4 weeks
price: contact lab
Macrocephaly / Overgrowth 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
Comprehensive Skeletal Dysplasias and Disorders Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics, San Francisco - San Francisco, CA, USA
Marshall-Smith Syndrome, Deletions-Duplications (MLPA) NFIX Gene
method(s): ◦ Del/Dup (CNV) 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
Sotos Syndrome Type 2, Sequencing NFIX Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
TAT: 2-4 weeks
price: contact lab
Comprehensive Intellectual Disability (NextGen Sequencing Panel and Copy Number Analysis; 733 Genes + Fragile X Repeat Expansion and Methylation)
method(s): ◦ Del/Dup (CNV) ◦ Methylation Analysis ◦ Repeat Expansion / Contraction ◦ Sequencing, Next Gen 
MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA
Mental Retardation - different panels
method(s): ◦ Sequencing, Next Gen ◦ Del/Dup (CNV) 
Cologne University, Institute of Human Genetics - Cologne, Germany
TAT: 3-5 weeks
price: $2,190.00
Skeletal Disorders and Joint Problems Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA