TSC1 gene related symptoms and diseases

All the information presented here about the TSC1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC,ORPHANET,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to TSC1 gene

Symptoms // Phenotype % Cases
Seizures Common - Between 50% and 80% cases
Pneumothorax Uncommon - Between 30% and 50% cases
Cognitive impairment Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Pulmonary lymphangiomyomatosis Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with TSC1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Ungual fibroma
  • Renal angiomyolipoma
  • Shagreen patch
  • Chylothorax
  • Cafe-au-lait spot
  • Subcutaneous nodule
  • Generalized-onset seizure
  • Cerebral calcification

And 147 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to TSC1 gene

Here you will find a list of rare diseases related to the TSC1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


LYMPHANGIOLEIOMYOMATOSIS


Alternate names

LYMPHANGIOLEIOMYOMATOSIS Is also known as lam, lymphangiomyomatosis

Description

Lymphangioleiomyomatosis (LAM) is a multiple cystic lung disease characterized by progressive cystic destruction of the lung and lymphatic abnormalities, frequently associated with renal angiomyolipomas (AMLs). LAM occurs either sporadically or as a manifestation of tuberous sclerosis complex (TSC).

Most common symptoms of LYMPHANGIOLEIOMYOMATOSIS

  • Seizures
  • Pain
  • Cognitive impairment
  • Fever
  • Optic atrophy


More info about LYMPHANGIOLEIOMYOMATOSIS

SOURCES: OMIM ORPHANET MESH

TUBEROUS SCLEROSIS COMPLEX


Alternate names

TUBEROUS SCLEROSIS COMPLEX Is also known as tuberous sclerosis, bourneville syndrome

Description

Tuberous sclerosis complex (TSC) is a neurocutaneous disorder characterized by multisystem hamartomas and associated with neuropsychiatric features.

Most common symptoms of TUBEROUS SCLEROSIS COMPLEX

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Neoplasm
  • Cognitive impairment


More info about TUBEROUS SCLEROSIS COMPLEX

SOURCES: OMIM ORPHANET

TUBEROUS SCLEROSIS 1; TSC1


Alternate names

TUBEROUS SCLEROSIS 1; TSC1 Is also known as tuberous sclerosis complex, ts, tuberose sclerosis, tsc

Description

Tuberous sclerosis complex (TSC) is an autosomal dominant multisystem disorder characterized by hamartomas in multiple organ systems, including the brain, skin, heart, kidneys, and lung. Central nervous system manifestations include epilepsy, learning difficulties, behavioral problems, and autism. Renal lesions, usually angiomyolipomas, can cause clinical problems secondary to hemorrhage or by compression and replacement of healthy renal tissue, which can cause renal failure. Patients can also develop renal cysts and renal-cell carcinomas. Pulmonary lymphangioleiomyomatosis can develop in the lungs. Skin lesions include melanotic macules, facial angiofibromas, and patches of connective tissue nevi. There is a wide clinical spectrum, and some patients may have minimal symptoms with no neurologic disability (reviews by Crino et al., 2006 and Curatolo et al., 2008). Genetic Heterogeneity of Tuberous SclerosisSee also tuberous sclerosis-2 (OMIM ), which is caused by mutation in the TSC2 gene (OMIM ) on chromosome 16p13.Approximately 10 to 30% of cases of tuberous sclerosis are due to mutations in the TSC1 gene: the frequency of cases due to mutations in the TSC2 gene is consistently higher. TSC2 mutations are associated with more severe disease (Crino et al., 2006) (see GENOTYPE/PHENOTYPE CORRELATIONS section).

Most common symptoms of TUBEROUS SCLEROSIS 1; TSC1

  • Intellectual disability
  • Seizures
  • Neoplasm
  • Pain
  • Hypertension


More info about TUBEROUS SCLEROSIS 1; TSC1

SOURCES: OMIM

FOCAL CORTICAL DYSPLASIA, TYPE II; FCORD2


Alternate names

FOCAL CORTICAL DYSPLASIA, TYPE II; FCORD2 Is also known as focal cortical dysplasia of taylor, cortical dysplasia of taylor, cdt, fcdt, fcd2

Description

Focal cortical dysplasia type II (FCORD2), or focal cortical dysplasia of Taylor (FCDT), is a cerebral developmental malformation that results in a clinical phenotype of intractable epilepsy, usually requiring surgery. FCORD2 has been classified histologically into 2 subtypes: a type without balloon cells, known as type IIA, and a type with balloon cells, known as type IIB (Palmini et al., 2004). Affected individuals have refractory seizures, usually with onset in early childhood, and may have persistent intellectual disability. Most patients require neurosurgical resection of affected brain tissue to ameliorate seizure frequency and severity (summary by Moller et al., 2016).

Most common symptoms of FOCAL CORTICAL DYSPLASIA, TYPE II; FCORD2

  • Intellectual disability
  • Seizures
  • Cognitive impairment
  • Intellectual disability, severe
  • EEG abnormality


More info about FOCAL CORTICAL DYSPLASIA, TYPE II; FCORD2

SOURCES: ORPHANET OMIM

ADULT HEPATOCELLULAR CARCINOMA


Alternate names

ADULT HEPATOCELLULAR CARCINOMA Is also known as adult hcc

Description

Adult hepatocellular carcinoma is the most common primary liver cancer of adulthood. Derived from well-differentiated hepatocytes, it often develops from chronic liver cirrhosis which is most often due to hepatitis B and C virus or alcohol abuse. Symptoms are hepatic mass, abdominal pain and, in advanced stages, jaundice, cachexia and liver failure.


More info about ADULT HEPATOCELLULAR CARCINOMA

SOURCES: ORPHANET

ISOLATED FOCAL CORTICAL DYSPLASIA TYPE IIB


Alternate names

ISOLATED FOCAL CORTICAL DYSPLASIA TYPE IIB Is also known as fcd type iib


More info about ISOLATED FOCAL CORTICAL DYSPLASIA TYPE IIB

SOURCES: ORPHANET


Potential gene panels for TSC1 gene

PreSeek Non-invasive Prenatal Gene Sequencing Screen Panel

United States.

By Baylor Miraca Genetics Laboratories PreSeek Non-invasive Prenatal Gene Sequencing Screen that also includes the following genes: RIT1 BRAF SMC1A SOS1 SOS2 CDKL5 SYNGAP1 TSC1 TSC2 HDAC8

More info about this panel

TSC1 Deletion Analysis Panel

United States.

By Athena Diagnostics Inc

This panel specifically test the TSC1 gene.

More info about this panel

TSC Familial Mutation Evaluation Panel

United States.

By Athena Diagnostics Inc TSC Familial Mutation Evaluation that also includes the following genes: TSC1 TSC2

More info about this panel

TSC1 Sequencing Test Panel

United States.

By Athena Diagnostics Inc

This panel specifically test the TSC1 gene.

More info about this panel

Epilepsy Advanced Sequencing and CNV Evaluation Panel

United States.

By Athena Diagnostics Inc Epilepsy Advanced Sequencing and CNV Evaluation that also includes the following genes: SCN1A SCN1B SCN2A SCN3A SCN5A SCN8A SCN9A SHH ST3GAL3 ST3GAL5

More info about this panel

Epilepsy Advanced Sequencing and CNV Evaluation - Syndromic Disorders Panel

United States.

By Athena Diagnostics Inc Epilepsy Advanced Sequencing and CNV Evaluation - Syndromic Disorders that also includes the following genes: SYNGAP1 TBX1 TSC1 TSC2 SETBP1 PANK2 ADGRV1 ATP6V0A2 MAGI2 VPS13A

More info about this panel

Complete Tuberous Sclerosis Sequencing and CNV Evaluation Panel

United States.

By Athena Diagnostics Inc Complete Tuberous Sclerosis Sequencing and CNV Evaluation that also includes the following genes: TSC1 TSC2

More info about this panel

TSC1 CNV Test Panel

United States.

By Athena Diagnostics Inc

This panel specifically test the TSC1 gene.

More info about this panel

Syndromic Autism Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Syndromic Autism Panel that also includes the following genes: SCN1A SCN2A BRAF SLC2A1 SLC9A6 SMC1A KDM5C CDKL5 STXBP1 TBR1

More info about this panel

NGS Epilepsy/Seizure Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center NGS Epilepsy/Seizure Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN5A SCN8A SCN9A SHH ST3GAL3 ST3GAL5 STIL

More info about this panel

Comprehensive Pulmonary Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Comprehensive Pulmonary Panel that also includes the following genes: RPGR SCNN1A SCNN1B SCNN1G BMPR1B BMPR2 SFTPA1 SFTPA2 SFTPB SFTPC

More info about this panel

Tuberous Sclerosis Type 1 (TSC1) Panel

United States.

By Center for Human Genetics, Inc

This panel specifically test the TSC1 gene.

More info about this panel

Inherited Cancer Panel Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Inherited Cancer Panel that also includes the following genes: BLM SDHB BMPR1A BRCA1 BRCA2 STK11 EPCAM TP53 TSC1 TSC2

More info about this panel

Ciliopathies Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Ciliopathies that also includes the following genes: RPE65 RPGR SDCCAG8 TSC1 TSC2 CEP41 TULP1 USH1C USH2A CLRN1

More info about this panel

Epilepsy/Seizure Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Epilepsy/Seizure that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A SLC2A1 SLC6A8 SLC9A6 BTD SPTAN1

More info about this panel

Infantile Epilepsy Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Infantile Epilepsy that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SLC2A1 SLC6A8 SLC9A6 BTD SPTAN1 CDKL5

More info about this panel

Tuberous Sclerosis Complex Panel

Denmark.

By Medical Genetics Laboratory, Kennedy Center Juliane Marie Center, Rigshospitalet Tuberous Sclerosis Complex that also includes the following genes: TSC1 TSC2

More info about this panel

VistaSeq Renal Cell Cancer Panel Panel

Canada.

By Molecular Diagnostic Laboratory University of Alberta VistaSeq Renal Cell Cancer Panel that also includes the following genes: SDHB SDHC SDHD EPCAM TP53 TSC1 TSC2 VHL WT1 FLCN

More info about this panel

Renal Cystic Disorders Sequencing Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Renal Cystic Disorders Sequencing Panel that also includes the following genes: SALL1 SDCCAG8 HNF1B TFAP2A TSC1 TSC2 CEP41 UMOD VHL ARL6

More info about this panel

Epilepsy Panel - Comprehensive Panel

Argentina.

By Molecular Genetics Laboratory Centro de Investigaciones Endocrinologicas "Dr. Cesar Bergada" Epilepsy Panel - Comprehensive that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A SLC2A1 SLC6A8 SLC9A6 SPTAN1 CDKL5

More info about this panel

Cystic Lung Disease Panel (8 Genes) Panel

United States.

By Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine Cystic Lung Disease Panel (8 Genes) that also includes the following genes: TSC1 TSC2 FLCN EFEMP2 ELN FBLN5 LTBP4 SERPINA1

More info about this panel

PulmoGene Panel (64 Genes) Panel

United States.

By Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine PulmoGene Panel (64 Genes) that also includes the following genes: RPGR BDNF SCNN1A SCNN1B SCNN1G BMPR2 SFTPA1 SFTPA2 SFTPB SFTPC

More info about this panel

Exome PLUS Proteinuria/FSGS & Hematuria Panel

United States.

By Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine Exome PLUS Proteinuria/FSGS & Hematuria that also includes the following genes: CFB TRPC6 TSC1 TSC2 C1QA C1QC WT1 C3 NPHS2 ADAMTS13

More info about this panel

ExomePLUS Cystic Disease & Dysplasia/Agenesis Panel

United States.

By Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine ExomePLUS Cystic Disease & Dysplasia/Agenesis that also includes the following genes: BMP4 HNF1B TSC1 TSC2 UMOD WT1 INVS NPHP4 FRAS1 ANKS6

More info about this panel

Hereditary Cancer Panel, Sequencing and Deletion/Duplication Panel

United States.

By ARUP Laboratories, Molecular Genetics and Genomics Hereditary Cancer Panel, Sequencing and Deletion/Duplication that also includes the following genes: SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCB1 STK11 EPCAM TP53

More info about this panel

Hereditary Renal Cancer Panel, Sequencing and Deletion/Duplication Panel

United States.

By ARUP Laboratories, Molecular Genetics and Genomics Hereditary Renal Cancer Panel, Sequencing and Deletion/Duplication that also includes the following genes: SDHB SDHC SDHD TP53 TSC1 TSC2 VHL FLCN FH MET

More info about this panel

Comprehensive Epilepsy Panel Panel

United States.

By GeneDx Comprehensive Epilepsy Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SLC2A1 SLC9A6 SPTAN1 CDKL5 STXBP1 SYN1

More info about this panel

Infantile Epilepsy Panel Panel

United States.

By GeneDx Infantile Epilepsy Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SLC2A1 SLC9A6 SPTAN1 CDKL5 STXBP1 TCF4

More info about this panel

Tuberous Sclerosis Panel Panel

United States.

By GeneDx Tuberous Sclerosis Panel that also includes the following genes: TSC1 TSC2

More info about this panel

Renal Cancer Panel Panel

United States.

By GeneDx Renal Cancer Panel that also includes the following genes: SDHB SDHC SDHD EPCAM TP53 TSC1 TSC2 VHL FLCN FH

More info about this panel

Autism/Intellectual Disability/Multiple Anomalies Panel

United States.

By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center Autism/Intellectual Disability/Multiple Anomalies that also includes the following genes: BDNF RPS6KA3 SCN1A BRAF SLC2A1 SLC6A4 SLC9A6 SMC1A KDM5C SOS1

More info about this panel

Hereditary Cancer Panel - Renal19 Panel

United States.

By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center Hereditary Cancer Panel - Renal19 that also includes the following genes: SDHA SDHB SDHC SDHD EPCAM TP53 TSC1 TSC2 VHL CDC73

More info about this panel

Hereditary Cancer Panel - Neuro17 Panel

United States.

By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center Hereditary Cancer Panel - Neuro17 that also includes the following genes: TP53 TSC1 TSC2 VHL SUFU ALK APC MEN1 MLH1 MSH2

More info about this panel

Hereditary Cancer Panel - Endocrine/Paraganglioma-Pheochromocytoma17 Panel

United States.

By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center Hereditary Cancer Panel - Endocrine/Paraganglioma-Pheochromocytoma17 that also includes the following genes: SDHA SDHB SDHC SDHD TP53 TSC1 TSC2 VHL CDC73 SDHAF2

More info about this panel

Hereditary Cancer Panel- Comprehensive63 Panel

United States.

By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center Hereditary Cancer Panel- Comprehensive63 that also includes the following genes: BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCA4 STK11

More info about this panel

Polycystic kidney and liver disease modifier panel Panel

United Kingdom.

By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust Polycystic kidney and liver disease modifier panel that also includes the following genes: HNF1B TSC1 TSC2 UMOD DNAJB11 SEC61B SEC61A1 SEC63 ALG8 DZIP1L

More info about this panel

AutismNext Panel

United States.

By Ambry Genetics AutismNext that also includes the following genes: SCN2A SLC6A8 SLC9A6 SMC1A CDKL5 SYNGAP1 TBR1 TCF4 MED12 TSC1

More info about this panel

BrainTumorNext Panel

United States.

By Ambry Genetics BrainTumorNext that also includes the following genes: SMARCA4 SMARCB1 SMARCE1 TP53 TSC1 TSC2 VHL SUFU DICER1 POT1

More info about this panel

CancerNext-Expanded Panel

United States.

By Ambry Genetics CancerNext-Expanded that also includes the following genes: BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCA4 SMARCB1

More info about this panel

CustomNext: Cancer Panel

United States.

By Ambry Genetics CustomNext: Cancer that also includes the following genes: BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCA4 SMARCB1

More info about this panel

CustomNext: Neuro Panel

United States.

By Ambry Genetics CustomNext: Neuro that also includes the following genes: RPL10 RPS6KA3 SCN1A SCN1B SCN2A SCN8A ST3GAL3 SLC16A2 SLC2A1 SLC35A2

More info about this panel

Neurodevelopment-Expanded Panel

United States.

By Ambry Genetics Neurodevelopment-Expanded that also includes the following genes: RPL10 RPS6KA3 SCN1A SCN1B SCN2A SCN8A ST3GAL3 SLC16A2 SLC2A1 SLC35A2

More info about this panel

RenalNext Panel

United States.

By Ambry Genetics RenalNext that also includes the following genes: SDHA SDHB SDHC SDHD EPCAM TP53 TSC1 TSC2 VHL FLCN

More info about this panel

TSC1 and TSC2 gene sequence and deletion/duplication Panel

United States.

By Ambry Genetics TSC1 and TSC2 gene sequence and deletion/duplication that also includes the following genes: TSC1 TSC2

More info about this panel

EpiFirst-Infantile Spasms Panel

United States.

By Ambry Genetics EpiFirst-Infantile Spasms that also includes the following genes: SCN2A SCN8A SIK1 SPTAN1 CDKL5 STXBP1 TSC1 TSC2 ARX KCNT1

More info about this panel

EpilepsyNext Panel

United States.

By Ambry Genetics EpilepsyNext that also includes the following genes: SCN1A SCN1B SCN2A SCN8A ST3GAL3 SLC2A1 SLC35A2 SLC6A1 SLC9A6 SMC1A

More info about this panel

EpiRapid Panel

United States.

By Ambry Genetics EpiRapid that also includes the following genes: SCN1A SCN8A SLC2A1 STXBP1 TSC1 TSC2 PCDH19 KCNT1 PNPO PRRT2

More info about this panel

EpiRapid reflex EpilepsyNext Panel

United States.

By Ambry Genetics EpiRapid reflex EpilepsyNext that also includes the following genes: SCN1A SCN1B SCN2A SCN8A ST3GAL3 SLC2A1 SLC35A2 SLC6A1 SLC9A6 SMC1A

More info about this panel

Segmental Overgrowth Disorders - NGS panel (8 genes) Panel

Netherlands.

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam Segmental Overgrowth Disorders - NGS panel (8 genes) that also includes the following genes: TSC1 TSC2 AKT1 AKT3 MTOR PIK3CA PIK3R2 PTEN

More info about this panel

TSC1. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the TSC1 gene.

More info about this panel

TSC1. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the TSC1 gene.

More info about this panel

TSC1, TSC2. NextGeneDx.Complete sequencing by NGS Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica TSC1, TSC2. NextGeneDx.Complete sequencing by NGS that also includes the following genes: TSC1 TSC2

More info about this panel

TSC1. MLPA testing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the TSC1 gene.

More info about this panel

Hereditary Kidney Cancer Panel Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Hereditary Kidney Cancer Panel that also includes the following genes: SDHA SDHB SDHC SDHD SMARCB1 TSC1 TSC2 VHL WT1 CDC73

More info about this panel

CHOP Epilepsy Panel Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia CHOP Epilepsy Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A ST3GAL3 SLC2A1 SLC35A2 SLC6A1 SLC6A8 SPTAN1

More info about this panel

TSC1-Related Lymphangioleiomyomatosis Panel

Portugal.

By CGC Genetics

This panel specifically test the TSC1 gene.

More info about this panel

Focal cortical dysplasia of Taylor Panel

Portugal.

By CGC Genetics

This panel specifically test the TSC1 gene.

More info about this panel

Tuberous sclerosis 1 (deletion/duplication analysis of TSC1 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the TSC1 gene.

More info about this panel

Tuberous sclerosis 1 (sequence analysis of TSC1 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the TSC1 gene.

More info about this panel

Tuberous sclerosis 1 and 2 (deletion/duplication analysis of TSC1 and TSC2 genes) Panel

Portugal.

By CGC Genetics Tuberous sclerosis 1 and 2 (deletion/duplication analysis of TSC1 and TSC2 genes) that also includes the following genes: TSC1 TSC2

More info about this panel

Tuberous sclerosis 1 and 2 (sequence analysis of TSC1 and TSC2 genes) Panel

Portugal.

By CGC Genetics Tuberous sclerosis 1 and 2 (sequence analysis of TSC1 and TSC2 genes) that also includes the following genes: TSC1 TSC2

More info about this panel

OncoRisk Plus (NGS panel for 89 genes) Panel

Portugal.

By CGC Genetics OncoRisk Plus (NGS panel for 89 genes) that also includes the following genes: RUNX1 BLM SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCB1 STK11

More info about this panel

Tuberous Sclerosis Panel

India.

By Institute of Medical Genetics and Genomics Sir Ganga Ram Hospital Tuberous Sclerosis that also includes the following genes: TSC1 TSC2

More info about this panel

Tuberous Sclerosis Complex NGS panel Panel

United States.

By Medical Genomics Laboratory Department of Genetics UAB Tuberous Sclerosis Complex NGS panel that also includes the following genes: TSC1 TSC2

More info about this panel

Early Infantile Epileptic Encephalopathy Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Early Infantile Epileptic Encephalopathy Sequencing Panel with CNV Detection that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A ST3GAL3 ST3GAL5 SLC2A1 SLC35A2 SLC9A6

More info about this panel

Cancer Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Cancer Sequencing Panel with CNV Detection that also includes the following genes: RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCA4

More info about this panel

Tuberous Sclerosis Complex via TSC1 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the TSC1 gene.

More info about this panel

Comprehensive Epilepsy and Seizure Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Comprehensive Epilepsy and Seizure Sequencing Panel with CNV Detection that also includes the following genes: RORB SCN10A SCN1A SCN1B SCN2A SCN8A SCN9A ST3GAL3 ST3GAL5 SLC17A5

More info about this panel

Renal Cancer Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Renal Cancer Sequencing Panel with CNV Detection that also includes the following genes: SDHA SDHB SDHC SDHD SMARCB1 EPCAM TP53 TSC1 TSC2 VHL

More info about this panel

Tuberous Sclerosis Complex Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Tuberous Sclerosis Complex Sequencing Panel with CNV Detection that also includes the following genes: TSC1 TSC2

More info about this panel

Interstitial Lung Disease Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Interstitial Lung Disease Sequencing Panel with CNV Detection that also includes the following genes: SFTPA2 SFTPB SFTPC SLC34A2 SLC7A7 SMPD1 STAT3 TERC TERT TINF2

More info about this panel

Autism Spectrum Disorders Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Autism Spectrum Disorders Sequencing Panel with CNV Detection that also includes the following genes: SCN1A SCN2A SGSH BRAF SLC6A1 SLC9A6 SPAST CDKL5 STXBP1 SYN2

More info about this panel

Epilepsy and Seizure Plus Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Epilepsy and Seizure Plus Sequencing Panel with CNV Detection that also includes the following genes: RORB RYR3 SCN1A SCN1B SCN2A SCN3A SCN5A SCN8A SCN9A SGCE

More info about this panel

Hereditary Cystic Kidney Diseases Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Hereditary Cystic Kidney Diseases Sequencing Panel with CNV Detection that also includes the following genes: SDCCAG8 HNF1B TSC1 TSC2 UMOD VHL NEK8 DNAJB11 ZNF423 DICER1

More info about this panel

Tuberous Sclerosis Complex Deletion/Duplication Testing via MLPA Panel

United States.

By PreventionGenetics PreventionGenetics Tuberous Sclerosis Complex Deletion/Duplication Testing via MLPA that also includes the following genes: TSC1 TSC2

More info about this panel

Tuberous sclerosis NGS panel Panel

United States.

By Connective Tissue Gene Tests Tuberous sclerosis NGS panel that also includes the following genes: TSC1 TSC2

More info about this panel

Polycystic kidney disease and related disorders NGS panel Panel

United States.

By Connective Tissue Gene Tests Polycystic kidney disease and related disorders NGS panel that also includes the following genes: HNF1B TSC1 TSC2 UMOD ALG9 ZNF423 INVS SEC61A1 BICC1 OFD1

More info about this panel

Tuberous sclerosis Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Tuberous sclerosis Deletion / Duplication panel that also includes the following genes: TSC1 TSC2

More info about this panel

Tuberous sclerosis Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Tuberous sclerosis Comprehensive panel that also includes the following genes: TSC1 TSC2

More info about this panel

Polycystic kidney disease and related disorders Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Polycystic kidney disease and related disorders Deletion / Duplication panel that also includes the following genes: HNF1B TSC1 TSC2 UMOD ALG9 ZNF423 INVS SEC61A1 BICC1 OFD1

More info about this panel

Polycystic kidney disease and related disorders Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Polycystic kidney disease and related disorders Comprehensive panel that also includes the following genes: HNF1B TSC1 TSC2 UMOD ALG9 ZNF423 INVS SEC61A1 BICC1 OFD1

More info about this panel

Renal cell carcinoma Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Renal cell carcinoma that also includes the following genes: HNF1B TSC1 TSC2 VHL DICER1 CDKN1B WT1-AS FLCN DIS3L2 MAX

More info about this panel

Mental retardation - different panels Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Mental retardation - different panels that also includes the following genes: RGS7 RIT1 RMRP BCS1L RPL10 RPS6KA3 RRAS SALL1 SC5D ATXN10

More info about this panel

Hereditary kidney disorders - different panels Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Hereditary kidney disorders - different panels that also includes the following genes: BCS1L ROBO2 CNNM2 CFB SALL1 ATXN10 SCNN1A SCNN1B SCNN1G SDCCAG8

More info about this panel

Custom gene seqeuncing panel Panel

United States.

By Molecular Diagnostics Laboratory University of Toledo Medical Center Custom gene seqeuncing panel that also includes the following genes: RYR1 SDHA SDHC EPCAM TP53 TSC1 TSC2 TTR VHL CACNA1S

More info about this panel

Hereditary Renal Cancer panel Panel

United States.

By Molecular Diagnostics Laboratory University of Toledo Medical Center Hereditary Renal Cancer panel that also includes the following genes: SDHA SDHC TP53 TSC1 TSC2 VHL FLCN FH MET MITF

More info about this panel

TSC1 and TSC2 gene sequencing and deletion/duplication analysis Panel

United States.

By Molecular Diagnostics Laboratory University of Toledo Medical Center TSC1 and TSC2 gene sequencing and deletion/duplication analysis that also includes the following genes: TSC1 TSC2

More info about this panel

Macrocephaly Panel

Germany.

By MGZ Medical Genetics Center Macrocephaly that also includes the following genes: SYN1 MED12 TSC1 TSC2 NSD1 CCND2 RAB39B MLC1 BRWD3 CDKN1C

More info about this panel

Nephrology Endocrinology and Electrolytes - panels Panel

Germany.

By MGZ Medical Genetics Center Nephrology Endocrinology and Electrolytes - panels that also includes the following genes: ROBO2 SALL1 BLK BMP4 BMP7 SIX1 SIX2 SIX5 SLC12A1 SLC12A3

More info about this panel

Mental Retardation and Dysmorphology - panels Panel

Germany.

By MGZ Medical Genetics Center Mental Retardation and Dysmorphology - panels that also includes the following genes: RIT1 ROR2 RPL10 RPS6KA3 RRAS SALL1 SF3B4 SGSH ST3GAL3 SLC16A2

More info about this panel

Hereditary Cancer Syndromes - panels Panel

Germany.

By MGZ Medical Genetics Center Hereditary Cancer Syndromes - panels that also includes the following genes: RUNX1 BLM SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCB1 STK11

More info about this panel

Syndromal Diseases - panels Panel

Germany.

By MGZ Medical Genetics Center Syndromal Diseases - panels that also includes the following genes: RIT1 ROR2 RPL10 RPS6KA3 RRAS SALL1 SF3B4 SGSH ST3GAL3 SLC16A2

More info about this panel

Renal Cancer Panel

Germany.

By MGZ Medical Genetics Center Renal Cancer that also includes the following genes: SDHB SDHC SDHD SMARCB1 TP53 TSC1 TSC2 VHL WT1 FLCN

More info about this panel

Brain Malformations / Neuronal Migration Disorders Panel

Germany.

By MGZ Medical Genetics Center Brain Malformations / Neuronal Migration Disorders that also includes the following genes: RPL10 RPS6KA3 SCN1A SCN1B SCN2A SCN8A SGCE SGSH STIL SLC16A2

More info about this panel

Megalencephaly Panel

Germany.

By MGZ Medical Genetics Center Megalencephaly that also includes the following genes: TSC1 TSC2 CCND2 AKT1 AKT3 PIK3CA PIK3R2 PTEN

More info about this panel

Tuberous sclerosis Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the TSC1 gene.

More info about this panel

Cancer Hotspot Panel Panel

Germany.

By Centogene AG - the Rare Disease Company Cancer Hotspot Panel that also includes the following genes: BCL6 ROS1 BRAF BRCA1 BRCA2 SMARCB1 SMO SRC STK11 HNF1A

More info about this panel

Solid Tumor Panel Panel

Germany.

By Centogene AG - the Rare Disease Company Solid Tumor Panel that also includes the following genes: ROS1 BRAF SMARCA4 SMARCB1 ARID1A SMO STK11 TP53 TSC1 KDM6A

More info about this panel

AllNeuro panel Panel

Germany.

By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1

More info about this panel

Tuberous sclerosis panel Panel

Germany.

By Centogene AG - the Rare Disease Company Tuberous sclerosis panel that also includes the following genes: TSC1 TSC2

More info about this panel

CentoICU platinum plus Panel

Germany.

By Centogene AG - the Rare Disease Company CentoICU platinum plus that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC

More info about this panel

New Born testing (CentoICU) Panel

Germany.

By Centogene AG - the Rare Disease Company New Born testing (CentoICU) that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC

More info about this panel

Comprehensive pulmonary disease panel Panel

Germany.

By Centogene AG - the Rare Disease Company Comprehensive pulmonary disease panel that also includes the following genes: BDNF SCNN1A SCNN1B SCNN1G BMPR2 SFTPA1 SFTPA2 SFTPB SFTPC SFTPD

More info about this panel

Epileptic Encephalopathy Panel Panel

Germany.

By CeGaT GmbH Epileptic Encephalopathy Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A ST3GAL3 ST3GAL5 SLC2A1 SLC35A2 SLC9A6 SPTAN1

More info about this panel

Disorders associated with malignancy Panel Panel

Germany.

By CeGaT GmbH Disorders associated with malignancy Panel that also includes the following genes: BLM SDHB SDHD STK11 TERC TERT TINF2 TSC1 TSC2 XPA

More info about this panel

Familial Tumor Syndromes Panel Panel

Germany.

By CeGaT GmbH Familial Tumor Syndromes Panel that also includes the following genes: BLM SDHB SDHC SDHD SMARCA4 SMARCB1 SMARCE1 TP53 TSC1 TSC2

More info about this panel

Renal cell carcinoma Panel Panel

Germany.

By CeGaT GmbH Renal cell carcinoma Panel that also includes the following genes: SDHA SDHB SDHC SDHD EPCAM HNF1A HNF1B TP53 TSC1 TSC2

More info about this panel

Selected Genetic Syndromes with Seizures Panel Panel

Germany.

By CeGaT GmbH Selected Genetic Syndromes with Seizures Panel that also includes the following genes: SMARCA2 MED12 TSC1 TSC2 KDM6A NSD1 ZEB2 VPS13A PIGO GNE

More info about this panel

Single gene testing TSC1 Panel

Germany.

By CeGaT GmbH

This panel specifically test the TSC1 gene.

More info about this panel

Test for Tuberous Sclerosis 1 Panel

United Kingdom.

By All Wales Genetics Laboratory Institute of Medical Genetics

This panel specifically test the TSC1 gene.

More info about this panel

Tuberous sclerosis Panel

Poland.

By Laboratory of Human Genetics GENOMED Health Care Center Tuberous sclerosis that also includes the following genes: TSC1 TSC2

More info about this panel

tuberous sclerosis complex, TSC1 Panel

Israel.

By GGA - Galil Genetic Analysis

This panel specifically test the TSC1 gene.

More info about this panel

Cancer Predisposition Panel

Estonia.

By Asper Biogene Asper Biogene LLC Cancer Predisposition that also includes the following genes: RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCB1

More info about this panel

Epilepsy Panel

Estonia.

By Asper Biogene Asper Biogene LLC Epilepsy that also includes the following genes: SCN1A SCN1B SCN2A SCN8A ST3GAL3 ST3GAL5 SLC35A2 SLC35A3 SLC6A1 SLC6A8

More info about this panel

Tuberous Sclerosis Panel

Estonia.

By Asper Biogene Asper Biogene LLC Tuberous Sclerosis that also includes the following genes: TSC1 TSC2

More info about this panel

Autism Spectrum Disorders Panel

Estonia.

By Asper Biogene Asper Biogene LLC Autism Spectrum Disorders that also includes the following genes: RPL10 SCN1A SCN2A BRAF SLC6A4 SLC6A8 CDKL5 MED12 TSC1 TSC2

More info about this panel

Tuberous sclerosis, TSC1 Sequencing Panel

United States.

By Molecular Diagnostics Laboratory University of Toledo Medical Center

This panel specifically test the TSC1 gene.

More info about this panel

Neurocutaneous Panel Panel

United States.

By Molecular Vision Laboratory Neurocutaneous Panel that also includes the following genes: TSC1 TSC2 VHL SPRED1 KIT NF1 NF2

More info about this panel

Tuberous Sclerosis (TSC) Panel, Panel

United States.

By Molecular Vision Laboratory Tuberous Sclerosis (TSC) Panel, that also includes the following genes: TSC1 TSC2

More info about this panel

Tuberous Sclerosis (TSC1, TSC2) Panel

Belgium.

By Center for Human Genetics Cliniques Universitaires Saint Luc Tuberous Sclerosis (TSC1, TSC2) that also includes the following genes: TSC1 TSC2

More info about this panel

Focal cortical dysplasia, Taylor balloon cell type Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the TSC1 gene.

More info about this panel

Lymphangioleiomyomatosis Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the TSC1 gene.

More info about this panel

Tuberous sclerosis Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the TSC1 gene.

More info about this panel

TUBEROUS SCLEROSIS Panel

Spain.

By Hereditary Cancer Group - Genetic Diagnostic Unit Germans Trias I Pujol Research Institute TUBEROUS SCLEROSIS that also includes the following genes: TSC1 TSC2

More info about this panel

qCancer Risk Expanded Panel

Spain.

By Quantitative Genomic Medicine Laboratories, SL qCancer Risk Expanded that also includes the following genes: SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 STK11 EPCAM TP53 TSC1

More info about this panel

Focal cortical dysplasia, Taylor balloon cell type Panel

Slovakia.

By MedGene

This panel specifically test the TSC1 gene.

More info about this panel

Lymphangioleiomyomatosis Panel

Slovakia.

By MedGene

This panel specifically test the TSC1 gene.

More info about this panel

Tuberous sclerosis Panel

Slovakia.

By MedGene

This panel specifically test the TSC1 gene.

More info about this panel

Invitae Tuberous Sclerosis Complex Panel Panel

United States.

By Invitae Invitae Tuberous Sclerosis Complex Panel that also includes the following genes: TSC1 TSC2

More info about this panel

Invitae Common Hereditary Cancers Panel (Breast, Gyn, GI) Panel

United States.

By Invitae Invitae Common Hereditary Cancers Panel (Breast, Gyn, GI) that also includes the following genes: SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCA4 STK11 EPCAM

More info about this panel

Invitae Multi-Cancer Panel Panel

United States.

By Invitae Invitae Multi-Cancer Panel that also includes the following genes: RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCA4

More info about this panel

Invitae Renal/Urinary Tract Cancers Panel Panel

United States.

By Invitae Invitae Renal/Urinary Tract Cancers Panel that also includes the following genes: SDHB SDHC SMARCA4 SMARCB1 EPCAM TP53 TSC1 TSC2 VHL WT1

More info about this panel

Invitae Nervous System/Brain Cancer Panel Panel

United States.

By Invitae Invitae Nervous System/Brain Cancer Panel that also includes the following genes: SMARCA4 SMARCB1 SMARCE1 EPCAM TP53 TSC1 TSC2 VHL SUFU DICER1

More info about this panel

Invitae Epilepsy Panel Panel

United States.

By Invitae Invitae Epilepsy Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN3A SCN8A SCN9A SGCE SLC2A1 SLC35A2 SLC6A1

More info about this panel

Invitae Pediatric Nervous System/Brain Tumors Panel Panel

United States.

By Invitae Invitae Pediatric Nervous System/Brain Tumors Panel that also includes the following genes: SMARCB1 SMARCE1 EPCAM TP53 TSC1 TSC2 VHL SUFU DICER1 ALK

More info about this panel

Invitae Pediatric Solid Tumors Panel Panel

United States.

By Invitae Invitae Pediatric Solid Tumors Panel that also includes the following genes: BLM SDHA SDHB SDHC SDHD BMPR1A SMARCA4 SMARCB1 SMARCE1 STK11

More info about this panel

Invitae Pancreatic Cancer Panel Panel

United States.

By Invitae Invitae Pancreatic Cancer Panel that also includes the following genes: BMPR1A BRCA1 BRCA2 STK11 EPCAM TP53 TSC1 TSC2 VHL CDKN2A

More info about this panel

Tuberous Sclerosis: TSC1 gene sequence and deletions-duplications analysis (MLPA) Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the TSC1 gene.

More info about this panel

Tuberous Sclerosis: TSC1 gene sequence analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the TSC1 gene.

More info about this panel

Tuberous Sclerosis: TSC1 gene deletions-duplications analysis (MLPA) Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the TSC1 gene.

More info about this panel

Tuberous Sclerosis: TSC1 and TSC2 genes sequence and deletions-duplications analysis (MLPA) Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Tuberous Sclerosis: TSC1 and TSC2 genes sequence and deletions-duplications analysis (MLPA) that also includes the following genes: TSC1 TSC2

More info about this panel

Tuberous Sclerosis: TSC1 and TSC2 genes sequence analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Tuberous Sclerosis: TSC1 and TSC2 genes sequence analysis that also includes the following genes: TSC1 TSC2

More info about this panel

Tuberous Sclerosis: TSC1 and TSC2 genes deletions-duplications analysis (MLPA) Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Tuberous Sclerosis: TSC1 and TSC2 genes deletions-duplications analysis (MLPA) that also includes the following genes: TSC1 TSC2

More info about this panel

ONCOLOGY, PANEL Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases ONCOLOGY, PANEL that also includes the following genes: BLM SDHA SDHB SDHC SDHD BMPR1A BRAF BRCA1 BRCA2 SMARCA4

More info about this panel

Ciliopathies: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Ciliopathies: Sequencing Panel that also includes the following genes: RPE65 RPGR ATXN10 SCNN1A SCNN1B SCNN1G SDCCAG8 TSC1 TSC2 CEP41

More info about this panel

Epilepsy and Seizure Disorders: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Epilepsy and Seizure Disorders: Sequencing Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN3A SCN8A SCN9A SHH ST3GAL3 ST3GAL5 STIL

More info about this panel

Neurology: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Neurology: Sequencing Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A SHH ST3GAL3 ST3GAL5 STIL SIX3

More info about this panel

Pulmonary Disease: Comprehensive Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Pulmonary Disease: Comprehensive Sequencing Panel that also includes the following genes: BDNF SCNN1A SCNN1B SCNN1G BMPR2 SFTPB SFTPC SFTPD STAT3 TERT

More info about this panel

Hereditary Cancer Syndrome: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Hereditary Cancer Syndrome: Sequencing Panel that also includes the following genes: BLM SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCA4 SMARCB1 STK11

More info about this panel

Cystic Lung Disease: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Cystic Lung Disease: Sequencing Panel that also includes the following genes: TSC1 TSC2 FLCN EFEMP2 ELN FBLN5 LTBP4 SERPINA1

More info about this panel

Tuberous Sclerosis: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Tuberous Sclerosis: Sequencing Panel that also includes the following genes: TSC1 TSC2

More info about this panel

Ciliopathies: Deletion/Duplication Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Ciliopathies: Deletion/Duplication Panel that also includes the following genes: RPE65 RPGR ATXN10 SDCCAG8 TSC1 TSC2 TULP1 UMOD USH1C USH2A

More info about this panel

Cystic Lung Disease: Deletion/Duplication Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Cystic Lung Disease: Deletion/Duplication Panel that also includes the following genes: TSC1 TSC2 FLCN EFEMP2 ELN FBLN5 LTBP4 SERPINA1

More info about this panel

Epilepsy and Seizure Disorders: Deletion/Duplication Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Epilepsy and Seizure Disorders: Deletion/Duplication Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN3A SCN8A SCN9A SHH ST3GAL3 ST3GAL5 STIL

More info about this panel

Hereditary Cancer Syndrome: Deletion/Duplication Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Hereditary Cancer Syndrome: Deletion/Duplication Panel that also includes the following genes: BLM SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCB1 STK11 BUB1B

More info about this panel

Autism NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Autism NGS Panel that also includes the following genes: RPL10 BDNF SCN1A SCN2A BRAF SLC6A4 SLC9A6 SMC1A KDM5C SNRPN

More info about this panel

Cystic Lung Disease NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Cystic Lung Disease NGS Panel that also includes the following genes: TSC1 TSC2 FLCN EFEMP2 ELN FBLN5 LTBP4 SERPINA1

More info about this panel

Epilepsy NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Epilepsy NGS Panel that also includes the following genes: BCS1L SCN10A SCN1A SCN1B SCN2A SCN2B SCN3A SCN4A SCN4B SCN5A

More info about this panel

Hereditary Cancer NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Hereditary Cancer NGS Panel that also includes the following genes: ROBO2 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCB1

More info about this panel

Lung Disorders NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Lung Disorders NGS Panel that also includes the following genes: BDNF SCNN1A SCNN1B SCNN1G BMPR2 SFTPA1 SFTPA2 SFTPB SFTPC TERC

More info about this panel

Intellectual Disability NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Intellectual Disability NGS Panel that also includes the following genes: BCS1L RPS6KA3 SACS BIN1 SCN1A SCN8A SDCCAG8 SGCA SGSH ST3GAL3

More info about this panel

Kidney Renal Cancer NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Kidney Renal Cancer NGS Panel that also includes the following genes: SDHA SDHB SDHC SDHD EPCAM TP53 TSC1 TSC2 VHL FLCN

More info about this panel

Renal/Kidney NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Renal/Kidney NGS Panel that also includes the following genes: SDHA SDHB SDHC SDHD SMARCB1 EPCAM TP53 TSC1 TSC2 VHL

More info about this panel

TSC1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the TSC1 gene.

More info about this panel

Essential Epilepsy NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Essential Epilepsy NGS Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A ST3GAL3 ST3GAL5 SLC2A1 SLC35A2 SLC9A6

More info about this panel

Early-Onset Epileptic Encephalopathy NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Early-Onset Epileptic Encephalopathy NGS Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN3A SCN5A SCN8A SCN9A ST3GAL3 ST3GAL5 SLC25A12

More info about this panel

Comprehensive Epilepsy NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Comprehensive Epilepsy NGS Panel that also includes the following genes: BCS1L RYR3 SCN10A SCN1A SCN1B SCN2A SCN2B SCN3A SCN4A SCN4B

More info about this panel

Nervous System / Brain Cancer Comprehensive Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Nervous System / Brain Cancer Comprehensive Panel that also includes the following genes: SMARCA4 SMARCB1 SMARCE1 EPCAM TP53 TSC1 TSC2 VHL SUFU DICER1

More info about this panel

Pancreatic Cancer Comprehensive Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Pancreatic Cancer Comprehensive Panel that also includes the following genes: BMPR1A BRCA1 BRCA2 STK11 EPCAM TP53 TSC1 TSC2 VHL CDK4

More info about this panel

Comprehensive Cancer Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Comprehensive Cancer Panel that also includes the following genes: ROBO2 RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2

More info about this panel

Renal / Urinary Cancer Comprehensive Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Renal / Urinary Cancer Comprehensive Panel that also includes the following genes: SDHA SDHB SDHC SDHD SMARCA4 SMARCB1 EPCAM TP53 TSC1 TSC2

More info about this panel

Tuberosa Sclerosis Panel

Hungary.

By PentaCoreLab Tuberosa Sclerosis that also includes the following genes: TSC1 TSC2

More info about this panel

KidneySeq - 264 Genes Panel

United States.

By Iowa Institute of Human Genetics University of Iowa KidneySeq - 264 Genes that also includes the following genes: ROBO2 CNNM2 SALL1 ATXN10 SCNN1A SCNN1B SCNN1G SDCCAG8 BMP4 SEMA3E

More info about this panel

Cystic Kidney Disease Panel Panel

Finland.

By Blueprint Genetics Cystic Kidney Disease Panel that also includes the following genes: SDCCAG8 SIX5 HNF1B TSC1 TSC2 UMOD VHL NEK8 ZNF423 INVS

More info about this panel

Cystic Lung Disease Panel Panel

Finland.

By Blueprint Genetics Cystic Lung Disease Panel that also includes the following genes: TSC1 TSC2 FLCN EFEMP2 ELN FBLN5 LTBP4 SERPINA1

More info about this panel

Hereditary Pediatric Cancer Panel Panel

Finland.

By Blueprint Genetics Hereditary Pediatric Cancer Panel that also includes the following genes: RIT1 RRAS RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRAF

More info about this panel

Comprehensive Hereditary Cancer Panel Panel

Finland.

By Blueprint Genetics Comprehensive Hereditary Cancer Panel that also includes the following genes: RIT1 RRAS RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRAF

More info about this panel

Tuberous Sclerosis Panel Panel

Finland.

By Blueprint Genetics Tuberous Sclerosis Panel that also includes the following genes: TSC1 TSC2

More info about this panel

Autism Spectrum Disorders Panel Panel

Finland.

By Blueprint Genetics Autism Spectrum Disorders Panel that also includes the following genes: RPL10 TCF20 TRIP12 TSC1 TSC2 BCL11A CACNA1C NSD1 NLGN4X NLGN3

More info about this panel

Hereditary Pancreatic Cancer Panel Panel

Finland.

By Blueprint Genetics Hereditary Pancreatic Cancer Panel that also includes the following genes: BMPR1A BRCA1 BRCA2 STK11 BUB1B EPCAM TP53 TSC1 TSC2 VHL

More info about this panel

Macrocephaly / Overgrowth Syndrome Panel Panel

Finland.

By Blueprint Genetics Macrocephaly / Overgrowth Syndrome Panel that also includes the following genes: SYN1 MED12 TSC1 TSC2 NSD1 CCND2 RAB39B MLC1 BRWD3 CDKN1C

More info about this panel

Comprehensive Pulmonology Panel Panel

Finland.

By Blueprint Genetics Comprehensive Pulmonology Panel that also includes the following genes: SCN4A SCNN1A SCNN1B SFTPA1 SFTPA2 SFTPB SFTPC SLC34A2 SLC6A5 SLC7A7

More info about this panel

Hereditary Gastrointestinal Cancer Panel Panel

Finland.

By Blueprint Genetics Hereditary Gastrointestinal Cancer Panel that also includes the following genes: BLM SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCB1 STK11 BUB1B

More info about this panel

Interstitial Lung Disease Panel Panel

Finland.

By Blueprint Genetics Interstitial Lung Disease Panel that also includes the following genes: SFTPA1 SFTPA2 SFTPB SFTPC SLC34A2 SLC7A7 SMPD1 STAT3 TERC TERT

More info about this panel

Epileptic Encephalopathy Panel Panel

Finland.

By Blueprint Genetics Epileptic Encephalopathy Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCO1 ST3GAL3 ST3GAL5 SLC25A1 SLC2A1 SLC35A2

More info about this panel

Hereditary Renal Cancer Panel Panel

Finland.

By Blueprint Genetics Hereditary Renal Cancer Panel that also includes the following genes: SDHB SDHC SDHD SMARCA4 SMARCB1 EPCAM TP53 TSC1 TSC2 VHL

More info about this panel

Comprehensive Epilepsy Panel Panel

Finland.

By Blueprint Genetics Comprehensive Epilepsy Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A SCO1 AIMP1 ST3GAL3 ST3GAL5 SLC25A1

More info about this panel

Focus::Renal® NGS Panel Panel

United States.

By Cancer Genetics, Inc. Cancer Genetics, Inc. Focus::Renal® NGS Panel that also includes the following genes: RHEB ROS1 BRAF ARID1A KDM5C SMO TP53 TSC1 TSC2 VHL

More info about this panel

Tuberous sclerosis 1 Panel

Spain.

By Bioarray

This panel specifically test the TSC1 gene.

More info about this panel

Isolated focal cortical dysplasia Panel

Spain.

By Bioarray

This panel specifically test the TSC1 gene.

More info about this panel

Tuberous sclerosis Panel

Spain.

By Bioarray

This panel specifically test the TSC1 gene.

More info about this panel

Tuberous sclerosis 1 Panel

Spain.

By Bioarray

This panel specifically test the TSC1 gene.

More info about this panel

Somatic Overgrowth Gene Set Panel

United States.

By Genomics and Pathology Services Washington University in St. Louis Somatic Overgrowth Gene Set that also includes the following genes: SMO TSC1 TSC2 AKT1 AKT2 AKT3 MTOR GNA11 GNAQ IDH1

More info about this panel

Solid Tumor Gene Set Panel

United States.

By Genomics and Pathology Services Washington University in St. Louis Solid Tumor Gene Set that also includes the following genes: RIT1 ROS1 RXRA FOXL2 BRAF BRCA1 BRCA2 SMARCA4 SMARCB1 KDM5C

More info about this panel

Genitourinary Tumors Gene Set Panel

United States.

By Genomics and Pathology Services Washington University in St. Louis Genitourinary Tumors Gene Set that also includes the following genes: RXRA BRAF BRCA1 BRCA2 KDM5C STAG2 TERT MED12 TP53 TSC1

More info about this panel

Thoracic Tumors Gene Set Panel

United States.

By Genomics and Pathology Services Washington University in St. Louis Thoracic Tumors Gene Set that also includes the following genes: RIT1 ROS1 BRAF SMARCA4 STK11 MED12 TP53 TSC1 TSC2 KMT2C

More info about this panel

Tuberous Sclerosis Complex NGS and Deletion/Duplication Panel Panel

United States.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children Tuberous Sclerosis Complex NGS and Deletion/Duplication Panel that also includes the following genes: TSC1 TSC2

More info about this panel

TSC1 Gene Sequencing and Deletion/Duplication Analysis Panel

United States.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children

This panel specifically test the TSC1 gene.

More info about this panel

Exome Panel

Brazil.

By DNA CONSULT GENETICA E BIOTECNOLOGIA LTDA. Exome that also includes the following genes: RPL10 ATXN1 ATXN2 ATXN8OS SEMA3E GEMIN2 BRAF BRCA1 BRCA2 SOX9

More info about this panel

Rapid microarray (CGH and SNP) Panel

United States.

By Allele Diagnostics Allele Diagnostics Rapid microarray (CGH and SNP) that also includes the following genes: RPS19 RUNX2 SALL1 SCN1A SCN2A SDHB SDHD BMPR1A SGCE SH2D1A

More info about this panel

High-Resolution Rapid Microarray (CGH and SNP) Panel

United States.

By Allele Diagnostics Allele Diagnostics High-Resolution Rapid Microarray (CGH and SNP) that also includes the following genes: RPS19 RUNX2 SALL1 SCN1A SCN2A SDHB SDHD BMPR1A SGCE SH2D1A

More info about this panel

Tuberous Sclerosis Complex(TSC) panel Panel

Taiwan.

By National Taiwan University Hospital A1 Center National Taiwan University Hospital Tuberous Sclerosis Complex(TSC) panel that also includes the following genes: TSC1 TSC2

More info about this panel

Genetic Test of single known genetic variant Panel

Taiwan.

By National Taiwan University Hospital A1 Center National Taiwan University Hospital Genetic Test of single known genetic variant that also includes the following genes: BRCA1 BRCA2 TP53 TSC1 TSC2 GNAS MEN1 PKD1 PKD2 RET

More info about this panel

FoundationOne® Heme Panel

United States.

By Foundation Medicine, Inc. FoundationOne® Heme that also includes the following genes: BCL6 BCL7A ROS1 RUNX1 BLM SDHA SDHB SDHC SDHD SF3B1

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Guardant360 Panel

United States.

By Guardant Health Guardant360 that also includes the following genes: RHEB RIT1 ROS1 BRAF BRCA1 BRCA2 ARID1A SMO STK11 HNF1A

More info about this panel

NeoTYPE® Discovery Profile for Solid Tumors Panel

United States.

By NeoGenomics Laboratories NeoGenomics Laboratories, Inc. NeoTYPE® Discovery Profile for Solid Tumors that also includes the following genes: BCL6 ROS1 RUNX1 BLM SDHA SDHB SDHC SDHD SF3B1 FOXL2

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Caris MI TumorSeek 592-Gene NGS Panel Panel

United States.

By Caris Life Sciences Caris MI TumorSeek 592-Gene NGS Panel that also includes the following genes: BCL6 BCL7A BCL9 BCR ROS1 RPL10 RPL22 RPL5 RPN1 RUNX1

More info about this panel

OmniSeq Comprehensive Panel

United States.

By OmniSeq, Inc. OmniSeq Comprehensive that also includes the following genes: RHEB BCL9 ROS1 RPS6KB1 SF3B1 FOXL2 BRAF BRCA1 BRCA2 SMARCB1

More info about this panel

Tuberous sclerosis NGS- PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL Tuberous sclerosis NGS- PANEL that also includes the following genes: TSC1 TSC2

More info about this panel

LYMPHANGIOLEIOMYOMATOSIS Panel

Spain.

By Laboratorio de Genetica Clinica SL LYMPHANGIOLEIOMYOMATOSIS that also includes the following genes: TSC1 TSC2

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TUBEROUS SCLEROSIS Panel

Spain.

By Laboratorio de Genetica Clinica SL TUBEROUS SCLEROSIS that also includes the following genes: TSC1 TSC2

More info about this panel

LYMPHANGIOLEIOMYOMATOSIS NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL LYMPHANGIOLEIOMYOMATOSIS NGS PANEL that also includes the following genes: TSC1 TSC2

More info about this panel

Tuberous sclerosis panel Panel

Canada.

By LifeLabs Genetics Tuberous sclerosis panel that also includes the following genes: TSC1 TSC2

More info about this panel

Providence Personalized Medicine Panel - Solid Tumor Panel

United States.

By Providence Regional Laboratories Providence Health and Services Providence Personalized Medicine Panel - Solid Tumor that also includes the following genes: BCR ROS1 RUNX1 SDHA SDHB SDHC SDHD SF3B1 SRSF2 FOXL2

More info about this panel

Tuberous Sclerosis Type 1 , Deletions-Duplications (MLPA) TSC1 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the TSC1 gene.

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Oncology Genetic Panel , Panel Massive Sequencing (NGS) 90 Genes Panel

Spain.

By Reference Laboratory Genetics Oncology Genetic Panel , Panel Massive Sequencing (NGS) 90 Genes that also includes the following genes: RUNX1 BLM SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCB1 STK11

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Hereditary Renal Cancer , Panel Massive Sequencing (NGS) 21 Genes Panel

Spain.

By Reference Laboratory Genetics Hereditary Renal Cancer , Panel Massive Sequencing (NGS) 21 Genes that also includes the following genes: SDHB SDHD EPCAM HNF1A HNF1B TP53 TSC1 TSC2 VHL WT1

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Tuberous Sclerosis Type 1 , Sequencing TSC1 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the TSC1 gene.

More info about this panel

Tuberous Sclerosis , Panel Massive Sequencing (NGS) (TSC1 and TSC2) Genes Panel

Spain.

By Reference Laboratory Genetics Tuberous Sclerosis , Panel Massive Sequencing (NGS) (TSC1 and TSC2) Genes that also includes the following genes: TSC1 TSC2

More info about this panel

Autism Spectrum Disorders (Expanded Panel) , Panel Massive Sequencing (NGS) 77 Genes Panel

Spain.

By Reference Laboratory Genetics Autism Spectrum Disorders (Expanded Panel) , Panel Massive Sequencing (NGS) 77 Genes that also includes the following genes: RPL10 BDNF SCN1A SCN2A BRAF SLC6A4 SLC9A6 SMC1A KDM5C SNRPN

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Polycystic Kidney Disease Panel

Australia.

By Genome.One Polycystic Kidney Disease that also includes the following genes: HNF1B TSC1 TSC2 UMOD OFD1 GANAB PKD1 PKD2 PKHD1

More info about this panel

Phosphorus Brain and Nervous System Cancer Panel Panel

United States.

By Phosphorus Diagnostics LLC Phosphorus Brain and Nervous System Cancer Panel that also includes the following genes: SDHA SDHB SDHC SDHD SMARCA4 SMARCB1 SMARCE1 EPCAM TP53 TSC1

More info about this panel

Phosphorus Pancreatic Cancer including Chronic Pancreatitis Genes Panel Panel

United States.

By Phosphorus Diagnostics LLC Phosphorus Pancreatic Cancer including Chronic Pancreatitis Genes Panel that also includes the following genes: BMPR1A BRCA1 BRCA2 SPINK1 STK11 EPCAM TP53 TSC1 TSC2 VHL

More info about this panel

Phosphorus Pancreatic Cancer Panel Panel

United States.

By Phosphorus Diagnostics LLC Phosphorus Pancreatic Cancer Panel that also includes the following genes: BMPR1A BRCA1 BRCA2 STK11 EPCAM TP53 TSC1 TSC2 VHL CDKN2A

More info about this panel

Phosphorus Renal/Urinary Tract Cancer Panel Panel

United States.

By Phosphorus Diagnostics LLC Phosphorus Renal/Urinary Tract Cancer Panel that also includes the following genes: SDHA SDHB SDHC SDHD SMARCA4 SMARCB1 EPCAM TP53 TSC1 TSC2

More info about this panel

Phosphorus Pan-Cancer Panel Panel

United States.

By Phosphorus Diagnostics LLC Phosphorus Pan-Cancer Panel that also includes the following genes: RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCA4

More info about this panel

Phosphorus Pediatric Cancers Panel Panel

United States.

By Phosphorus Diagnostics LLC Phosphorus Pediatric Cancers Panel that also includes the following genes: RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A SMARCB1 STK11 EPCAM

More info about this panel

152 Integrated Advantage NGS Solid Tumor Panel Panel

United States.

By Integrated Molecular Diagnostics Pathology, Inc. 152 Integrated Advantage NGS Solid Tumor Panel that also includes the following genes: ROS1 RRM1 SLCO1B1 BRAF BRCA1 SLC29A1 BRCA2 SMO SPARC SRC

More info about this panel

Tempus xT assay Panel

United States.

By Tempus Labs, Inc. Tempus xT assay that also includes the following genes: BCL6 RIT1 BCL7A BCR ROS1 RPL5 RPS15 RPS6KB1 RUNX1 RXRA

More info about this panel

Tempus xO assay Panel

United States.

By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2

More info about this panel

Renal Cancer: Gene Sequencing Panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics Renal Cancer: Gene Sequencing Panel that also includes the following genes: SDHB SDHC SDHD SMARCB1 BUB1B TP53 TSC1 TSC2 VHL WT1

More info about this panel

Renal Cancer: Gene Deletion/Duplication Panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics Renal Cancer: Gene Deletion/Duplication Panel that also includes the following genes: SDHB SDHC SDHD SMARCB1 BUB1B TP53 TSC1 TSC2 VHL WT1

More info about this panel

CEN4GEN Comprehensive Hereditary Cancer Syndrome: Gene sequencing Panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics CEN4GEN Comprehensive Hereditary Cancer Syndrome: Gene sequencing Panel that also includes the following genes: RNASEL RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2

More info about this panel

Hereditary Cancer Syndrome: Gene Sequencing Panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics Hereditary Cancer Syndrome: Gene Sequencing Panel that also includes the following genes: BLM SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCA4 SMARCB1 STK11

More info about this panel

Hereditary Cancer Syndrome: Gene Deletion/Duplication Panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics Hereditary Cancer Syndrome: Gene Deletion/Duplication Panel that also includes the following genes: BLM SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCB1 STK11 BUB1B

More info about this panel


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