CDKN1C

OMIMHGNC

Synonym(s): P57, KIP2, BWCR, BWS

Locus: 11p15.4

Protein: Cyclin-dependent kinase inhibitor 1C transcript variant 3

 

Disorders

Tests

Test Type
Molecular (107)
Cytogenetic (1)
Multi-Gene Panel (86)
Multi-Method Panel (55)
Test Method
Del/Dup (CNV) (52)
FISH-Metaphase (1)
Methylation Analysis (8)
Mutation Scanning of Entire Coding Region (1)
Sequencing, Capillary (Sanger) (32)
Repeat Expansion / Contraction (1)
Uniparental Disomy (3)
Sequencing, Next Gen (79)
Prenatal/Carrier
Prenatal (45)
Carrier (59)
Lab Location
USA(51)
Netherlands(1)
Korea, Republic of(1)
Spain(6)
Portugal(5)
Germany(16)
Turkey(1)
Canada(11)
Poland(2)
United Kingdom(2)
Estonia(1)
Austria(1)
Finland(10)
 
TAT: 4-8 weeks
price: $635.00
Analysis CDKN1C gene (Beckwith-Wiedemann Syndrome)
method(s): ◦ Sequencing, Capillary (Sanger) 
Academic Medical Centre, University of Amsterdam, DNA Diagnostics Laboratory - Amsterdam, Netherlands
TAT: 3 weeks
price: contact lab
Beckwith-Wiedemann Syndrome
method(s): ◦ Sequencing, Capillary (Sanger) 
University of Pennsylvania School of Medicine, Genetic Diagnostic Laboratory - Philadelphia, PA, USA
TAT: 3-4 weeks
price: contact lab
Beckwith-Wiedemann Syndrome Test
method(s): ◦ Del/Dup (CNV) 
University of Pennsylvania School of Medicine, Genetic Diagnostic Laboratory - Philadelphia, PA, USA
TAT: 3 weeks
price: contact lab
IMAGe Syndrome Test
method(s): ◦ Sequencing, Capillary (Sanger) 
University of Pennsylvania School of Medicine, Genetic Diagnostic Laboratory - Philadelphia, PA, USA
Beckwith-Wiedemann Syndrome Test
method(s): ◦ Sequencing, Capillary (Sanger) 
bio.logis Center for Human Genetics - Frankfurt am Main, Germany
CDKN1C-related BWS test
method(s): ◦ Sequencing, Capillary (Sanger) 
Medical Genetics Center, Asan Medical Center - Seoul, Korea, Republic of
FISH-Beckwith-Wiedemann Syndrome
method(s): ◦ FISH-Metaphase 
Baylor Miraca Genetics Laboratories - Houston, TX, USA
TAT: 3-4 weeks
price: contact lab
Beckwith Wiedemann 11p15 Hypomethylation Analysis
method(s): ◦ Methylation Analysis 
Biyolojik Bilimler Arastirma Gelistirme ve Uretim AS, Duzen Laboratuvarlar Grubu - Istanbul, Turkey
IMAGe Syndrome
method(s): ◦ Sequencing, Capillary (Sanger) 
MVZ Dortmund Dr. Eberhard and Partner - Dortmund, Germany
TAT: 12-13 weeks
price: contact lab
Skeletal Dysplasia: Sequencing Panel
method(s):
EGL Genetic Diagnostics, Molecular Genetics Laboratory - Tucker, GA, USA
TAT: 12-13 weeks
price: contact lab
Disproportionate Short Stature: Sequencing Panel
method(s):
EGL Genetic Diagnostics, Molecular Genetics Laboratory - Tucker, GA, USA
TAT: 12-13 weeks
price: contact lab
Hereditary Cancer Syndrome: Sequencing Panel
method(s):
EGL Genetic Diagnostics, Molecular Genetics Laboratory - Tucker, GA, USA
TAT: 4-6 weeks
price: contact lab
Beckwith-Wiedemann Syndrome
method(s): ◦ Sequencing, Capillary (Sanger) 
Hospital for Sick Children, Genome Diagnostics Laboratory (formerly Molecular Genetics Laboratory) - Toronto, Canada
CDKN1C Gene, Full Gene Analysis
method(s): ◦ Sequencing, Capillary (Sanger) 
Mayo Clinic - Minnesota, Molecular Genetics Laboratory - Rochester, MN, USA
TAT: 6-7 weeks
price: contact lab
Sanger sequencing of the CDKN1C gene
method(s): ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Capillary (Sanger) 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
TAT: 4 weeks
price: contact lab
CDKN1C sequencing
method(s): ◦ Sequencing, Capillary (Sanger) 
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA
TAT: 8-9 weeks
price: contact lab
Neonatal Diabetes/MODY Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA
Hereditary Cancer Panel 170 PLUS
method(s): ◦ Sequencing, Next Gen 
Genomic Laboratory of the DNA Research Center LTD (Centrum Badań DNA sp z o.o.) - Poznań, Poland
Hearing Loss Panel
method(s): ◦ Sequencing, Next Gen 
Genomic Laboratory of the DNA Research Center LTD (Centrum Badań DNA sp z o.o.) - Poznań, Poland
Beckwith-Wiedemann syndrome (sequence analysis of CDKN1C gene)
method(s): ◦ Sequencing, Capillary (Sanger) 
CGC Genetics - Porto, Portugal
Oncology Genetic Panel , Panel Massive Sequencing (NGS) 94 Genes
method(s): ◦ Sequencing, Next Gen 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
TAT: 6-8 weeks
price: $2,500.00
Overgrowth NGS Gene Panel
method(s): ◦ Sequencing, Next Gen 
University of Pennsylvania School of Medicine, Genetic Diagnostic Laboratory - Philadelphia, PA, USA
Beckwith-Wiedemann Syndrome, Sequencing CDKN1C Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
Beckwith Wiedemann Syndrome
method(s): ◦ Del/Dup (CNV) ◦ Methylation Analysis 
South West Thames Genetics Laboratory, St George's University of London - London, United Kingdom
Russell Silver Syndrome
method(s): ◦ Methylation Analysis 
South West Thames Genetics Laboratory, St George's University of London - London, United Kingdom
Beckwith-Wiedemann Syndrome: CDKN1C gene sequence analysis
method(s): ◦ Sequencing, Capillary (Sanger) 
GENETAQ, Molecular Genetics Centre - Malaga, Spain
TAT: 3-5 weeks
price: contact lab
Hereditary Cancer Syndromes, Comprehensive Diagnostics
method(s): ◦ Sequencing, Next Gen 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
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: 1-3 weeks
price: contact lab
Beckwith-Wiedemann Syndrome Test
method(s): ◦ Del/Dup (CNV) ◦ Methylation Analysis ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen ◦ Uniparental Disomy 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
TAT: 2-4 weeks
price: contact lab
Chromosome 11p15.5-Related Russell-Silver Syndrome Test
method(s): ◦ Del/Dup (CNV) ◦ Methylation Analysis ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen ◦ Uniparental Disomy 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
TAT: 3-4 weeks
price: contact lab
IMAGe Syndrome Test
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
TAT: 1-3 weeks
price: contact lab
Russell-Silver Syndrome
method(s): ◦ Del/Dup (CNV) ◦ Methylation Analysis ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen ◦ Uniparental Disomy 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
TAT: 4-6 weeks
price: contact lab
Syndromic Hearing Loss Panel
method(s): ◦ Sequencing, Next Gen 
CeGaT GmbH - Tübingen, Germany
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
Overgrowth and Intellectual Disability NGS Panel
method(s): ◦ Sequencing, Next Gen 
DDC Clinic Molecular Diagnostics Laboratory - Middlefield, OH, USA
Syndromic deafness (NGS panel of 62 genes)
method(s): ◦ Sequencing, Next Gen 
CGC Genetics - Porto, Portugal
Syndromic and non syndromic deafness (NGS panel of 127 genes)
method(s): ◦ Sequencing, Next Gen 
CGC Genetics - Porto, Portugal
Wilms Tumor: Sequencing Panel
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
Wilms Tumor: Deletion/Duplication Panel
method(s): ◦ Del/Dup (CNV) 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
Disproportionate Short Stature: Sequencing Panel
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
Disproportionate Short Stature: Deletion/Duplication Panel
method(s): ◦ Del/Dup (CNV) 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
Renal Cancer: Sequencing Panel
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
Renal Cancer: 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
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
TAT: 8-9 weeks
price: contact lab
OncoRisk Plus (NGS panel for 89 genes)
method(s): ◦ Sequencing, Next Gen 
CGC Genetics - Porto, Portugal
TAT: 4-6 weeks
price: contact lab
Selected Genetic Syndromes with skeletal involvement Panel
method(s): ◦ Sequencing, Next Gen 
CeGaT GmbH - Tübingen, Germany
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: 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: contact lab
price: $1,201.00
Cancer Predisposition
method(s): ◦ Sequencing, Next Gen 
Asper Biogene LLC - Tartu, Estonia
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 Metabolic Disease Hepatomegaly (NextGen Sequencing Panel and Copy Number Analysis; 79 genes + mtDNA)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA
TAT: 4-5 Weeks
price: contact lab
CDKN1C
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 4-6 Weeks
price: contact lab
Intellectual Disability NGS Panel
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
Hypercalcemia (NGS panel for 9 genes)
method(s): ◦ Sequencing, Next Gen 
CGC Genetics - Porto, Portugal
TAT: 2-3 weeks
price: contact lab
Comprehensive Cancer 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
Renal / Urinary Cancer Comprehensive 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
Sarcoma Cancer Comprehensive Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
Fulgent Diagnostics - Temple City, CA, 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
Beckwith-Wiedemann Syndrome via the CDKN1C Gene
method(s): ◦ Del/Dup (CNV) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 2-3 weeks
price: $630.00
Beckwith-Wiedemann Syndrome via the CDKN1C Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
Beckwith-Wiedemann Syndrome, Panel Massive Sequencing (NGS) 4 Genes
method(s): ◦ Sequencing, Next Gen 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
TAT: 4-6 weeks
price: contact lab
CDKN1C Gene Sequencing
method(s): ◦ Sequencing, Next Gen 
DDC Clinic Molecular Diagnostics Laboratory - Middlefield, OH, USA
Beckwith-Wiedemann syndrome (Beckwith-Wiedemann-Syndrom)
method(s): ◦ Sequencing, Next Gen 
Praxis fuer Humangenetik Wien - Vienna, Austria
TAT: ~2 weeks
price: contact lab
IMAGE syndrome
method(s): ◦ Sequencing, Capillary (Sanger) 
Centogene AG, Rare Disease Company - Rostock, Germany
TAT: ~2 weeks
price: contact lab
Beckwith-Wiedemann syndrome
method(s): ◦ Sequencing, Capillary (Sanger) 
Centogene AG, Rare Disease Company - Rostock, Germany
Hereditary Sarcoma (Susceptibility to), Panel Massive Sequencing (NGS) 25 Genes
method(s): ◦ Sequencing, Next Gen 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
TAT: 2-3 weeks
price: contact lab
CentoICU Platinum
method(s): ◦ Sequencing, Next Gen 
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: 1-3 weeks
price: $1,500.00
Invitae Multi-Cancer Panel
method(s): ◦ Sequencing, Next Gen ◦ Del/Dup (CNV) 
Invitae - San Francisco, CA, USA
TAT: 1-3 weeks
price: $1,500.00
Invitae Sarcoma Panel
method(s): ◦ Sequencing, Next Gen ◦ Del/Dup (CNV) 
Invitae - San Francisco, CA, USA
TAT: 1-3 weeks
price: $1,500.00
Invitae Wilms Tumor Panel
method(s): ◦ Sequencing, Next Gen ◦ Del/Dup (CNV) 
Invitae - San Francisco, CA, USA
TAT: 1-3 weeks
price: $1,500.00
Invitae Pediatric Solid Tumors Panel
method(s): ◦ Sequencing, Next Gen ◦ Del/Dup (CNV) 
Invitae - San Francisco, CA, USA
TAT: 1-3 weeks
price: $1,500.00
Invitae Renal/Urinary Tract Cancers Panel
method(s): ◦ Sequencing, Next Gen ◦ Del/Dup (CNV) 
Invitae - San Francisco, CA, USA
TAT: 4-5 weeks
price: contact lab
Metaphyseal dysplasia panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Centogene AG, Rare Disease Company - Rostock, Germany
Comprehensive Hereditary Cancer Panel
method(s): ◦ Sequencing, Next Gen 
Baylor Miraca Genetics Laboratories - Houston, TX, USA
Hereditary Renal Cancer Panel
method(s): ◦ Sequencing, Next Gen 
Baylor Miraca Genetics Laboratories - Houston, TX, USA
TAT: 3-4 weeks
price: contact lab
Abnormal Genitalia/ Disorders of Sex Development Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics, Helsinki - Helsinki, Finland
TAT: 3-4 weeks
price: contact lab
Comprehensive Hearing Loss and Deafness Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics, Helsinki - Helsinki, Finland
TAT: 3-4 weeks
price: contact lab
Comprehensive Hereditary Cancer 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
Hereditary Pediatric Cancer Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics, Helsinki - Helsinki, Finland
TAT: 3-4 weeks
price: contact lab
Hereditary Renal Cancer 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
Metaphyseal Dysplasia 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
Skeletal Dysplasias Core Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics, Helsinki - Helsinki, Finland
TAT: 3-4 weeks
price: contact lab
Abnormal Genitalia/ Disorders of Sex Development 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 Hearing Loss and Deafness 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 Hereditary Cancer 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
Hereditary Pediatric Cancer Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics, San Francisco - San Francisco, CA, USA
TAT: 3-4 weeks
price: contact lab
Hereditary Renal Cancer 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
Metaphyseal Dysplasia 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
TAT: 3-4 weeks
price: contact lab
Skeletal Dysplasias Core Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics, San Francisco - San Francisco, CA, USA
Phosphorus Pan Cancer Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Phosphorus Diagnostics - Secaucus, NJ, USA
Phosphorus Pediatric Cancers Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Phosphorus Diagnostics - Secaucus, NJ, USA
Phosphorus Renal Cancer Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Phosphorus Diagnostics - Secaucus, NJ, USA
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