PHF6 gene related symptoms and diseases
All the information presented here about the PHF6 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,OMIM,HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to PHF6 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Intellectual disability | Very Common - Between 80% and 100% cases |
| Hyperpigmentation of the skin | Very Common - Between 80% and 100% cases |
| Hammertoe | Very Common - Between 80% and 100% cases |
| Prominent supraorbital ridges | Very Common - Between 80% and 100% cases |
| Scrotal hypoplasia | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with PHF6 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Narrow palpebral fissure
- Hypergonadotropic hypogonadism
- Short toe
- Gynecomastia
- Heterotopia
- Truncal obesity
- Hypertrichosis
- Hypoplasia of penis
And 66 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to PHF6 gene
Here you will find a list of rare diseases related to the PHF6. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
BORJESON-FORSSMAN-LEHMANN SYNDROME
Alternate names
BORJESON-FORSSMAN-LEHMANN SYNDROME Is also known as mental retardation, x-linked, syndromic, borjeson-forssman-lehmann type, bfls, intellectual disability-epilepsy-endocrine disorders syndrome, borjeson syndrome, mrxsbfl, mental retardation, epilepsy, and endocrine disorders, borj
Description
Borjeson-Forssman-Lehmann syndrome (BFLS) is a rare X-linked obesity syndrome characterized by intellectual deficit, truncal obesity, characteristic facial features, hypogonadism, tapered fingers and short toes.
Most common symptoms of BORJESON-FORSSMAN-LEHMANN SYNDROME
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
More info about BORJESON-FORSSMAN-LEHMANN SYNDROME
Search interest in PHF6
Potential gene panels for PHF6 gene
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 United States.
Epilepsy Advanced Sequencing and CNV Evaluation - Intellectual Disability Panel
United States.
By Athena Diagnostics Inc Epilepsy Advanced Sequencing and CNV Evaluation - Intellectual Disability that also includes the following genes: SLC35A2 SLC6A8 SLC9A6 SMC1A KDM5C SMS SNAP25 CDKL5 SYN1 SYP
More info about this panel United States.
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 United States.
NGS XLID Panel Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center NGS XLID Panel that also includes the following genes: RPL10 RPS6KA3 SLC16A2 SLC9A6 SMC1A KDM5C SMS SOX3 CDKL5 SYN1
More info about this panel United States.
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 United States.
NGS Overgrowth/Macrocephaly Panel Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center NGS Overgrowth/Macrocephaly Panel that also includes the following genes: MED12 NSD1 CDKN1C PHF6 UPF3B RNF135 CUL4B DNMT3A EZH2 GLI3
More info about this panel United States.
Borjeson-Forssman-Lehmann syndrome Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
This panel specifically test the PHF6 gene.
More info about this panel United States.
Coffin-Siris Syndrome Panel Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Coffin-Siris Syndrome Panel that also includes the following genes: SMARCA2 SMARCA4 SMARCB1 SMARCE1 ARID1A SMC1A SOX11 BTD HDAC8 ADNP
More info about this panel United States.
Borjeson-Forssman-Lehmann syndrome Panel
United States.
By Center for Human Genetics, Inc
This panel specifically test the PHF6 gene.
More info about this panel United States.
Comprehensive Brain Malformation Panel Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Comprehensive Brain Malformation Panel that also includes the following genes: SHH STIL SIX3 SLC9A6 SOX2 CDKL5 TGIF1 MED12 CEP41 TUBA8
More info about this panel United States.
Macrocephaly Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Macrocephaly that also includes the following genes: MED12 NSD1 PHF6 UPF3B CUL4B EZH2 GLI3 NFIX PIK3CA PTCH1
More info about this panel United States.
X-Linked Intellectual Disabilities Deletion/Duplication Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University X-Linked Intellectual Disabilities Deletion/Duplication that also includes the following genes: RPL10 RPS6KA3 SLC16A2 SLC9A6 SMC1A KDM5C SMS SOX3 CDKL5 SYN1
More info about this panel United States.
X-linked Intellectual Disabilities Sequencing Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University X-linked Intellectual Disabilities Sequencing that also includes the following genes: RPL10 RPS6KA3 SLC16A2 SLC9A6 SMC1A KDM5C SMS SOX3 CDKL5 SYN1
More info about this panel United States.
X-Linked Intellectual Disabilities Sequencing and Deletion/Duplication Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University X-Linked Intellectual Disabilities Sequencing and Deletion/Duplication that also includes the following genes: RPL10 RPS6KA3 SLC16A2 SLC9A6 SMC1A KDM5C SMS SOX3 CDKL5 SYN1
More info about this panel United States.
MyeloidDx by NGS Panel
United States.
By Molecular Genetics Diagnostic Laboratory Detroit Medical Center University Laboratories MyeloidDx by NGS that also includes the following genes: RUNX1 SF3B1 SRSF2 BRAF SMC1A STAG2 TP53 U2AF1 KDM6A WT1
More info about this panel United States.
MyeloidDx by NGS Panel
United States.
By Molecular Genetics Diagnostic Laboratory Detroit Medical Center University Laboratories MyeloidDx by NGS that also includes the following genes: RUNX1 SF3B1 SRSF2 BRAF SMC1A STAG2 TP53 U2AF1 KDM6A WT1
More info about this panel United States.
Monogenic Obesity Sequencing Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Monogenic Obesity Sequencing Panel that also includes the following genes: SDCCAG8 SIM1 UCP3 ARL6 TRIM32 AFF4 PHF6 SETD2 BBS7 TTC8
More info about this panel United States.
Cornelia de Lange Syndrome PLUS Sequencing Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Cornelia de Lange Syndrome PLUS Sequencing Panel that also includes the following genes: ROR2 SMARCA2 SMARCA4 SMARCB1 SMARCE1 ARID1A SMC1A SOX11 WNT5A HDAC8
More info about this panel United States.
Non-Specific Intellectual Disability Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Non-Specific Intellectual Disability Panel that also includes the following genes: RPS6KA3 CLIP1 SCN2A ST3GAL3 SLC16A2 SLC25A1 SLC6A8 SLC9A6 SMARCA4 SMARCB1
More info about this panel United States.
X-linked Non-Specific Intellectual Disability Panel Panel
United States.
By Genetic Services Laboratory University of Chicago X-linked Non-Specific Intellectual Disability Panel that also includes the following genes: RPL10 RPS6KA3 SLC16A2 SLC6A8 SLC9A6 SMC1A KDM5C SMS CDKL5 SYN1
More info about this panel United States.
Coffin-Siris syndrome Sequencing Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Coffin-Siris syndrome Sequencing Panel that also includes the following genes: SMARCA2 SMARCA4 SMARCB1 SMARCE1 ARID1A SOX11 ADNP ARID1B PHF6 ANKRD11
More info about this panel United States.
Coffin-Siris syndrome Deletion/Duplication Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Coffin-Siris syndrome Deletion/Duplication Panel that also includes the following genes: SMARCA2 SMARCA4 SMARCB1 SMARCE1 ARID1A SOX11 ADNP ARID1B PHF6 ANKRD11
More info about this panel United States.
Cornelia de Lange PLUS Deletion/Duplication Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Cornelia de Lange PLUS Deletion/Duplication Panel that also includes the following genes: ROR2 SMARCA2 SMARCA4 SMARCB1 SMARCE1 ARID1A SMC1A SOX11 WNT5A HDAC8
More info about this panel United States.
Monogenic Obesity Deletion/Duplication Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Monogenic Obesity Deletion/Duplication Panel that also includes the following genes: SDCCAG8 SIM1 UCP3 ARL6 TRIM32 AFF4 PHF6 SETD2 BBS7 TTC8
More info about this panel United States.
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 United States.
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 United States.
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 United States.
PHF6 gene sequence and deletion/duplication Panel
United States.
By Ambry Genetics
This panel specifically test the PHF6 gene.
More info about this panel United States.
IDNext Panel
United States.
By Ambry Genetics IDNext that also includes the following genes: RPL10 RPS6KA3 SCN2A SCN8A ST3GAL3 SLC16A2 SLC2A1 SLC6A8 SLC9A6 SMARCA2
More info about this panel United States.
Borjeson-Forssman-Lehmann syndrome (sequence analysis of PHF6 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the PHF6 gene.
More info about this panel Portugal.
Mental retardation, X-linked (NGS panel for 89 genes) Panel
Portugal.
By CGC Genetics Mental retardation, X-linked (NGS panel for 89 genes) that also includes the following genes: RPS6KA3 SLC16A2 SLC6A8 SLC9A6 SMC1A KDM5C SMS SOX3 CDKL5 SYN1
More info about this panel Portugal.
X-Linked Intellectual Disability Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics X-Linked Intellectual Disability Sequencing Panel with CNV Detection that also includes the following genes: RPL10 RPS6KA3 SLC16A2 SLC35A2 SLC6A8 SLC7A3 SLC9A6 SMC1A KDM5C SMS
More info about this panel United States.
Cornelia de Lange Syndrome and Cornelia de Lange Syndrome-Related Disorders Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Cornelia de Lange Syndrome and Cornelia de Lange Syndrome-Related Disorders Sequencing Panel with CNV Detection that also includes the following genes: SMARCA4 SMARCB1 SMARCE1 ARID1A SMC1A SOX11 TAF1 TAF6 MED12 HDAC8
More info about this panel United States.
Comprehensive Monogenic Obesity Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Comprehensive Monogenic Obesity Panel with CNV Detection that also includes the following genes: BDNF SDCCAG8 SIM1 TUB UCP3 KDM6A ARL6 RAB23 TRIM32 PHF6
More info about this panel United States.
Coffin-Siris syndrome Panel
Germany.
By Institute of Human Genetics Uniklinik RWTH Aachen Coffin-Siris syndrome that also includes the following genes: SMARCA2 SMARCA4 SMARCB1 SMARCE1 ARID1A ARID1B PHF6
More info about this panel Germany.
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 Germany.
Coffin-Siris and Nicolaides-Baraitser Syndrome (CSS, NCBRS) Panel
Germany.
By MGZ Medical Genetics Center Coffin-Siris and Nicolaides-Baraitser Syndrome (CSS, NCBRS) that also includes the following genes: SMARCA2 SMARCA4 SMARCB1 SMARCE1 ARID1A ARID1B PHF6
More info about this panel Germany.
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 Germany.
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 Germany.
X-Linked Mental Retardation Panel
Germany.
By MGZ Medical Genetics Center X-Linked Mental Retardation that also includes the following genes: RPL10 RPS6KA3 SLC12A6 SLC16A2 SLC6A8 SLC9A6 SMC1A KDM5C SMS SOX3
More info about this panel Germany.
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 Germany.
Borjeson-Forssman-Lehmann Syndrome Panel
Germany.
By Bioscientia GmbH Center for Human Genetics
This panel specifically test the PHF6 gene.
More info about this panel Germany.
Epileptic syndromes with epilepsy and intellectual disability panel Panel
Netherlands.
By Genome Diagnostics Laboratory University Medical Center Utrecht Epileptic syndromes with epilepsy and intellectual disability panel that also includes the following genes: SLC6A8 SLC9A6 SMC1A KDM5C SMS CDKL5 STXBP1 SYNGAP1 SYP TCF4
More info about this panel Netherlands.
Myeloid Tumor Panel Panel
Germany.
By Centogene AG - the Rare Disease Company Myeloid Tumor Panel that also includes the following genes: RUNX1 SF3B1 SRSF2 BRAF SMC1A STAG2 TP53 U2AF1 KDM6A WT1
More info about this panel Germany.
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 Germany.
Borjeson-Forssman-Lehmann syndrome Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the PHF6 gene.
More info about this panel Germany.
Epilepsy and X-linked Mental Retardation with Seizures Panel Panel
Germany.
By CeGaT GmbH Epilepsy and X-linked Mental Retardation with Seizures Panel that also includes the following genes: SLC9A6 KDM5C SMS CDKL5 SYN1 SYP MED12 UBE2A PCDH19 ARHGEF9
More info about this panel Germany.
Single gene testing PHF6 Panel
Germany.
By CeGaT GmbH
This panel specifically test the PHF6 gene.
More info about this panel Germany.
Bardet Biedl Syndrome Panel
Estonia.
By Asper Biogene Asper Biogene LLC Bardet Biedl Syndrome that also includes the following genes: SDCCAG8 ARL6 TRIM32 PHF6 BBS7 TTC8 BBS10 BBS12 WDPCP CCDC28B
More info about this panel Estonia.
NGS HemeOnc Panel Panel
United States.
By BloodCenter of Wisconsin Diagnostic Laboratories BloodCenter of Wisconsin, part of Versiti NGS HemeOnc Panel that also includes the following genes: RUNX1 SF3B1 SRSF2 TP53 U2AF1 WT1 CBL SETBP1 PHF6 ASXL1
More info about this panel United States.
Invitae Overgrowth and Macrocephaly Syndromes Panel Panel
United States.
By Invitae Invitae Overgrowth and Macrocephaly Syndromes Panel that also includes the following genes: MED12 NSD1 CDKN1C PHF6 SETD2 SPRED1 CUL4B DIS3L2 DNMT3A EZH2
More info about this panel United States.
Borjeson-Forssman-Lehmann Syndrome: PHF6 Gene Sequencing Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics
This panel specifically test the PHF6 gene.
More info about this panel United States.
Borjeson-Forssman-Lehmann Syndrome: PHF6 Gene Deletion/Duplication Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics
This panel specifically test the PHF6 gene.
More info about this panel United States.
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 United States.
X-linked Intellectual Disability: Gene Sequencing and Deletion/Duplication Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics X-linked Intellectual Disability: Gene Sequencing and Deletion/Duplication Panel that also includes the following genes: RPL10 RPS6KA3 SLC16A2 SLC9A6 SMC1A KDM5C SMS SOX3 CDKL5 SYN1
More info about this panel United States.
Autism Spectrum Disorders: Tier 2 Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Autism Spectrum Disorders: Tier 2 Panel that also includes the following genes: SCN1A BRAF SLC2A1 SLC9A6 SMARCB1 SMC1A KDM5C CDKL5 TCF4 MED12
More info about this panel United States.
Macrocephaly: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Macrocephaly: Sequencing Panel that also includes the following genes: MED12 NSD1 PHF6 UPF3B CUL4B EZH2 GLI3 GPC3 NFIX PTCH1
More info about this panel United States.
Congenital Obesity: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Congenital Obesity: Sequencing Panel that also includes the following genes: SDCCAG8 SIM1 ARL6 TRIM32 PHF6 BBS7 TTC8 VPS13B BBS10 BBS12
More info about this panel United States.
Autism Spectrum Disorders: Tier 2 Deletion/Duplication Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Autism Spectrum Disorders: Tier 2 Deletion/Duplication Panel that also includes the following genes: SCN1A BRAF SLC2A1 SLC9A6 SMARCB1 SMC1A KDM5C CDKL5 TCF4 MED12
More info about this panel United States.
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 United States.
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 United States.
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 United States.
XLID NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics XLID NGS Panel that also includes the following genes: RPL10 RPS6KA3 SLC16A2 SLC9A6 SMC1A KDM5C SMS SOX3 CDKL5 SYN1
More info about this panel United States.
PHF6 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the PHF6 gene.
More info about this panel United States.
Idiopathic Generalized Epilepsy NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Idiopathic Generalized Epilepsy NGS Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A SLC2A1 SLC9A6 SMC1A KDM5C CDKL5
More info about this panel United States.
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 United States.
X-chromosome High Resolution microarray analysis Panel
United States.
By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center X-chromosome High Resolution microarray analysis that also includes the following genes: RP2 RPGR RPL10 RPS6KA3 RS1 SAT1 SH2D1A SHOX SLC16A2 SLC35A2
More info about this panel United States.
Monogenic Obesity Panel Panel
Finland.
By Blueprint Genetics Monogenic Obesity Panel that also includes the following genes: SDCCAG8 SIM1 UCP3 ARL6 TRIM32 PHF6 KSR2 BBS7 TTC8 VPS13B
More info about this panel Finland.
X-linked Intellectual Disability Panel Panel
Finland.
By Blueprint Genetics X-linked Intellectual Disability Panel that also includes the following genes: RPL10 RPS6KA3 SLC16A2 SLC6A8 SLC9A6 SMC1A KDM5C SMS SOX3 CDKL5
More info about this panel Finland.
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 Finland.
Focus::Myeloid™ NGS Panel Panel
United States.
By Cancer Genetics, Inc. Cancer Genetics, Inc. Focus::Myeloid™ NGS Panel that also includes the following genes: RUNX1 SF3B1 SRSF2 BRAF SMC1A STAG2 TP53 U2AF1 KDM6A WT1
More info about this panel United States.
Focus::Myeloid™ NGS Panel Panel
United States.
By Cancer Genetics, Inc. Cancer Genetics, Inc. Focus::Myeloid™ NGS Panel that also includes the following genes: RUNX1 SF3B1 SRSF2 BRAF SMC1A STAG2 TP53 U2AF1 KDM6A WT1
More info about this panel United States.
Focus::AML™ NGS Panel Panel
United States.
By Cancer Genetics, Inc. Cancer Genetics, Inc. Focus::AML™ NGS Panel that also includes the following genes: RUNX1 SF3B1 SRSF2 BRAF STAG2 TP53 U2AF1 KDM6A WT1 CALR
More info about this panel United States.
Borjeson-Forssman-Lehmann syndrome Panel
Spain.
By Bioarray
This panel specifically test the PHF6 gene.
More info about this panel Spain.
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
More info about this panel United States.
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 United States.
BORJESON-FORSSMAN-LEHMANN SYNDROME Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the PHF6 gene.
More info about this panel Spain.
COFFIN-SIRIS SYNDROME NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL COFFIN-SIRIS SYNDROME NGS PANEL that also includes the following genes: SMARCA2 SMARCA4 SMARCB1 SMARCE1 ARID1A SOX11 ARID1B PHF6
More info about this panel Spain.
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 United States.
Borjeson-Forssman-Lehman Syndrome, Sequencing PHF6 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the PHF6 gene.
More info about this panel Spain.
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
More info about this panel Spain.
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 United States.
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 United States.
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