MKKS gene related symptoms and diseases
All the information presented here about the MKKS gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,HGNC,NCBIGENE,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to MKKS gene
Symptoms // Phenotype | % Cases |
---|---|
Intellectual disability | Common - Between 50% and 80% cases |
Cryptorchidism | Common - Between 50% and 80% cases |
Obesity | Common - Between 50% and 80% cases |
Postaxial hand polydactyly | Common - Between 50% and 80% cases |
Tetralogy of Fallot | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with MKKS gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Hypospadias
- Syndactyly
- Postaxial polydactyly
- Vaginal atresia
- Hydrometrocolpos
- Polydactyly
- Multicystic kidney dysplasia
- Aganglionic megacolon
And 76 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to MKKS gene
Here you will find a list of rare diseases related to the MKKS. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
MCKUSICK-KAUFMAN SYNDROME
Alternate names
MCKUSICK-KAUFMAN SYNDROME Is also known as kaufman-mckusick syndrome, hydrometrocolpos-postaxial polydactyly syndrome
Description
McKusick-Kaufman syndrome is a very rare, genetic developmental disorder presenting in the neonatal period characterized by genitourinary malformations, polydactyly, and more rarely, congenital heart disease or gastrointestinal malformations.
Most common symptoms of MCKUSICK-KAUFMAN SYNDROME
- Intellectual disability
- Global developmental delay
- Short stature
- Failure to thrive
- Cleft palate
More info about MCKUSICK-KAUFMAN SYNDROME
SOURCES: ORPHANET
BARDET-BIEDL SYNDROME
Alternate names
BARDET-BIEDL SYNDROME Is also known as bbs
Description
Bardet-Biedl syndrome (BBS) is a ciliopathy with multisystem involvement.
Most common symptoms of BARDET-BIEDL SYNDROME
- Intellectual disability
- Short stature
- Hearing impairment
- Nystagmus
- Cryptorchidism
More info about BARDET-BIEDL SYNDROME
SOURCES: ORPHANET
BARDET-BIEDL SYNDROME 6; BBS6
Description
BBS6 is an autosomal recessive disorder with cardinal features of postaxial polydactyly, retinitis pigmentosa, kidney defects, obesity, and mental retardation (Slavotinek et al., 2000). Zaghloul and Katsanis (2009) estimated that mutations in the MKKS gene account for 5.8% of the total BBS mutational load.For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (OMIM ).
Most common symptoms of BARDET-BIEDL SYNDROME 6; BBS6
- Intellectual disability
- Intellectual disability, mild
- Syndactyly
- Obesity
- Hypospadias
More info about BARDET-BIEDL SYNDROME 6; BBS6
SOURCES: OMIM
MCKUSICK-KAUFMAN SYNDROME; MKKS
Alternate names
MCKUSICK-KAUFMAN SYNDROME; MKKS Is also known as hydrometrocolpos syndrome, kaufman-mckusick syndrome, hmcs, hydrometrocolpos, postaxial polydactyly, and congenital heart malformation
Description
McKusick-Kaufman syndrome is an autosomal recessive disorder characterized by genitourinary malformations, especially hydrometrocolpos, polydactyly, and, more rarely, heart or gastrointestinal malformations (summary by Schaefer et al., 2011).
Most common symptoms of MCKUSICK-KAUFMAN SYNDROME; MKKS
- Cryptorchidism
- Abnormality of the skeletal system
- Respiratory distress
- Edema
- Syndactyly
More info about MCKUSICK-KAUFMAN SYNDROME; MKKS
SOURCES: OMIM
Search interest in MKKS
Potential gene panels for MKKS gene
MitoMet®Plus aCGH Analysis Panel
By Baylor Miraca Genetics Laboratories MitoMet®Plus aCGH Analysis that also includes the following genes: RGS9 RHO GRK1 RLBP1 RNASEL BCS1L RP1 RP2 RP9 RPE65
More info about this panelBardet-Biedl Syndrome Panel Panel
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Bardet-Biedl Syndrome Panel that also includes the following genes: SDCCAG8 ARL6 TRIM32 IFT27 BBS7 TTC8 INPP5E ADIPOR1 BBS10 BBS12
More info about this panelCiliopathies Panel
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 panelBardet-Biedl Syndrome Sequencing Panel Panel
By Genetic Services Laboratory University of Chicago Bardet-Biedl Syndrome Sequencing Panel that also includes the following genes: SDCCAG8 ARL6 TRIM32 BBS7 TTC8 IFT74 BBS10 BBS12 WDPCP CEP290
More info about this panelMonogenic Obesity Sequencing Panel Panel
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 panelAbnormal/Ambiguous Genitalia Sequencing Panel Panel
By Genetic Services Laboratory University of Chicago Abnormal/Ambiguous Genitalia Sequencing Panel that also includes the following genes: ROR2 SALL1 BMP4 SEMA3A SOX9 SRD5A2 SRY STAR TBX15 CEP41
More info about this panelHypospadias Sequencing Panel Panel
By Genetic Services Laboratory University of Chicago Hypospadias Sequencing Panel that also includes the following genes: SALL1 BMP4 SOX2 SRD5A2 HNF1B MED12 WNT7A WT1 FBXL4 ZEB2
More info about this panelRenal Cystic Disorders Sequencing Panel Panel
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 panelBardet-Biedl Syndrome Deletion/Duplication Panel Panel
By Genetic Services Laboratory University of Chicago Bardet-Biedl Syndrome Deletion/Duplication Panel that also includes the following genes: SDCCAG8 ARL6 TRIM32 BBS7 TTC8 IFT74 BBS10 BBS12 WDPCP CEP290
More info about this panelMonogenic Obesity Deletion/Duplication Panel Panel
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 panelAutism/Intellectual Disability/Multiple Anomalies Panel
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 panelMKKS. Complete sequencing Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the MKKS gene.
More info about this panelMKKS-Related Bardet-Biedl Syndrome Panel
By CGC Genetics
This panel specifically test the MKKS gene.
More info about this panelBardet-Biedl syndrome (NGS panel for 22 genes) Panel
By CGC Genetics Bardet-Biedl syndrome (NGS panel for 22 genes) that also includes the following genes: SDCCAG8 ARL6 TRIM32 IFT27 BBS7 TTC8 BBS10 BBS12 WDPCP BBIP1
More info about this panelBardet-Bield syndrome type 6 (sequence analysis of MKKS gene) Panel
By CGC Genetics
This panel specifically test the MKKS gene.
More info about this panelCiliopathies (NGS panel for 90 genes) Panel
By CGC Genetics Ciliopathies (NGS panel for 90 genes) that also includes the following genes: SDCCAG8 SPAG1 CEP41 RSPH1 CFAP298 ARL6 NEK8 TMEM237 TRIM32 NME8
More info about this panelMcKusick Kaufman syndrome Panel
By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders
This panel specifically test the MKKS gene.
More info about this panelBardet-Biedl syndrome 6 Panel
By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders
This panel specifically test the MKKS gene.
More info about this panelBardet-Biedl syndrome Panel
By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders Bardet-Biedl syndrome that also includes the following genes: ARL6 TRIM32 BBS7 TTC8 BBS10 BBS12 WDPCP CEP290 BBS9 MKKS
More info about this panelHypospadias Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Hypospadias Sequencing Panel with CNV Detection that also includes the following genes: SALL1 BMP4 BMP7 SOX2 SRD5A2 HNF1B MED12 WNT7A WT1 FBXL4
More info about this panelBardet-Biedl Syndrome Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Bardet-Biedl Syndrome Sequencing Panel with CNV Detection that also includes the following genes: SDCCAG8 ARL6 TRIM32 IFT27 BBS7 TTC8 IFT74 BBS10 BBS12 C8orf37
More info about this panelComprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR
More info about this panelCiliopathy Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Ciliopathy Sequencing Panel with CNV Detection that also includes the following genes: RPGR SDCCAG8 SPAG1 CEP41 RSPH1 ZIC3 CFAP298 ARL6 NEK8 TMEM237
More info about this panelBardet-Biedl Syndrome via MKKS/BBS6 Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the MKKS gene.
More info about this panelFemale Infertility Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Female Infertility Sequencing Panel with CNV Detection that also includes the following genes: BMP15 SEMA3A SEMA3E FOXL2 SOX10 SOX2 SOX3 SOX9 SRA1 SRD5A2
More info about this panelMale Infertility Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Male Infertility Sequencing Panel with CNV Detection that also includes the following genes: SEMA3A SEMA3E FOXL2 BRDT SOX10 SOX2 SOX3 SOX9 SRA1 SRD5A2
More info about this panelDisorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Disorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection that also includes the following genes: ROR2 SALL1 BMP15 BMP4 SEMA3A SEMA3E BMP7 FOXL2 BRDT SOS1
More info about this panelDisorders of Sex Development (DSD) Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Disorders of Sex Development (DSD) Sequencing Panel with CNV Detection that also includes the following genes: ROR2 SALL1 BMP15 BMP4 SEMA3A BMP7 FOXL2 SOS1 SOX10 SOX2
More info about this panelAmbiguous Genitalia Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Ambiguous Genitalia Sequencing Panel with CNV Detection that also includes the following genes: ROR2 SALL1 BMP4 SEMA3A SOS1 SOX10 SOX2 SOX3 SOX9 SRD5A2
More info about this panelComprehensive Monogenic Obesity Panel with CNV Detection Panel
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 panelMental retardation - different panels Panel
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 panelHereditary kidney disorders - different panels Panel
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 panelMKKS-Related Bardet-Biedl Syndrome Panel
By Bioscientia GmbH Center for Human Genetics
This panel specifically test the MKKS gene.
More info about this panelMcKusick-Kaufman-Syndrome Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the MKKS gene.
More info about this panelMcKusick-Kaufman syndrome Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the MKKS gene.
More info about this panelBardet-Biedl syndrome type 6 Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the MKKS gene.
More info about this panelBardet Biedl panel Panel
By Centogene AG - the Rare Disease Company Bardet Biedl panel that also includes the following genes: SDCCAG8 ARL6 TRIM32 BBS7 TTC8 BBS10 BBS12 WDPCP CCDC28B CEP290
More info about this panelAllNeuro panel Panel
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 panelCentoICU platinum plus Panel
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 panelNew Born testing (CentoICU) Panel
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 panelMcKusick-Kaufman-Syndrome Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the MKKS gene.
More info about this panelBardet Biedl Syndrome Panel Panel
By CeGaT GmbH Bardet Biedl Syndrome Panel that also includes the following genes: SDCCAG8 ARL6 TRIM32 IFT27 BBS7 TTC8 TTC21B BBS10 BBS12 WDPCP
More info about this panelBardet Biedl Syndrome Panel Panel
By CeGaT GmbH Bardet Biedl Syndrome Panel that also includes the following genes: SDCCAG8 ARL6 TRIM32 IFT27 BBS7 TTC8 TTC21B BBS10 BBS12 WDPCP
More info about this panelBardet-Biedl Syndrome Panel Panel
By CeGaT GmbH Bardet-Biedl Syndrome Panel that also includes the following genes: SDCCAG8 ARL6 TRIM32 IFT27 BBS7 TTC8 TTC21B BBS10 BBS12 WDPCP
More info about this panelBardet-Biedl-Syndrom 6 Panel
By MVZ Dortmund Dr. Eberhard & Partner
This panel specifically test the MKKS gene.
More info about this panelBardet Biedl Syndrome Panel
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 panelEye diseases comprehensive panel Panel
By Asper Biogene Asper Biogene LLC Eye diseases comprehensive panel that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR
More info about this panelRetinal Dystrophy Panel Panel
By Molecular Vision Laboratory Retinal Dystrophy Panel that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR
More info about this panelBardet-Biedl syndrome panel Panel
By Molecular Vision Laboratory Bardet-Biedl syndrome panel that also includes the following genes: SDCCAG8 ARL6 TRIM32 IFT27 BBS7 TTC8 INPP5E BBS10 BBS12 C8orf37
More info about this panelBBS6/MKKS Panel
By Molecular Vision Laboratory
This panel specifically test the MKKS gene.
More info about this panelMVL Vision Panel Panel
By Molecular Vision Laboratory MVL Vision Panel that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR
More info about this panelBardet Biedl syndrome 06 Panel
By Praxis fuer Humangenetik Wien
This panel specifically test the MKKS gene.
More info about this panelqGenEx Sex development disorders Panel
By Quantitative Genomic Medicine Laboratories, SL qGenEx Sex development disorders that also includes the following genes: ROR2 SOX3 SOX9 SRD5A2 SRY STAR CEP41 TSPYL1 WNT4 WT1
More info about this panelBardet Biedl syndrome 06 Panel
By MedGene
This panel specifically test the MKKS gene.
More info about this panelInvitae Bardet-Biedl Syndrome Panel Panel
By Invitae Invitae Bardet-Biedl Syndrome Panel that also includes the following genes: SDCCAG8 ARL6 TRIM32 BBS7 TTC8 BBS10 BBS12 WDPCP CEP290 BBS9
More info about this panelInvitae Ciliopathies Panel Panel
By Invitae Invitae Ciliopathies Panel that also includes the following genes: RPGR SDCCAG8 SPAG1 CEP41 RSPH1 CFAP298 ARL6 NEK8 IFT122 TMEM237
More info about this panelBardet-Biedl syndrome Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Bardet-Biedl syndrome that also includes the following genes: SDCCAG8 ARL6 TRIM32 BBS7 TTC8 BBS10 BBS12 WDPCP BBIP1 CEP290
More info about this panelBardet-Biedl Syndrome: Sequencing Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Bardet-Biedl Syndrome: Sequencing Panel that also includes the following genes: SDCCAG8 ARL6 TRIM32 BBS7 TTC8 BBS10 BBS12 WDPCP CEP290 BBS9
More info about this panelEye Disorders: Comprehensive Sequencing Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Eye Disorders: Comprehensive Sequencing Panel that also includes the following genes: RGS9 RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR RS1
More info about this panelCiliopathies: Sequencing Panel Panel
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 panelCongenital Obesity: Sequencing Panel Panel
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 panelBardet-Biedl Syndrome: Deletion/Duplication Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Bardet-Biedl Syndrome: Deletion/Duplication Panel that also includes the following genes: SDCCAG8 ARL6 TRIM32 BBS7 TTC8 BBS10 BBS12 WDPCP CEP290 BBS9
More info about this panelCiliopathies: Deletion/Duplication Panel Panel
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 panelEye Disorders: Deletion/Duplication Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Eye Disorders: Deletion/Duplication Panel that also includes the following genes: RGS9 RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR RS1
More info about this panelCiliopathies NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Ciliopathies NGS Panel that also includes the following genes: RPE65 RPGR ATXN10 SDCCAG8 TULP1 UMOD USH1C USH2A CLRN1 VHL
More info about this panelBardet-Biedl Syndrome NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Bardet-Biedl Syndrome NGS Panel that also includes the following genes: SDCCAG8 ARL6 TRIM32 BBS7 TTC8 BBS10 BBS12 WDPCP CEP290 BBS9
More info about this panelEye Disorders NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Eye Disorders NGS Panel that also includes the following genes: RGS9 RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR CNNM4
More info about this panelDiabetes-Obesity NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Diabetes-Obesity NGS Panel that also includes the following genes: BDNF SDCCAG8 SIM1 HNF1A HNF1B WFS1 ARL6 NEUROG3 TRIM32 CEL
More info about this panelIntellectual Disability NGS Panel Panel
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 panelRetinitis Pigmentosa NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Retinitis Pigmentosa NGS Panel that also includes the following genes: RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR SAG SEMA4A
More info about this panelCongenital Hepatic Fibrosis NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Congenital Hepatic Fibrosis NGS Panel that also includes the following genes: ARL6 NEK8 TRIM32 INVS BBS7 NPHP4 EVC2 TTC8 AHI1 ARL13B
More info about this panelMKKS Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the MKKS gene.
More info about this panelKidneySeq - 264 Genes Panel
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 panelMonogenic Obesity Panel Panel
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 panelRetinal Dystrophy Panel Panel
By Blueprint Genetics Retinal Dystrophy Panel that also includes the following genes: RGS9 RHO RLBP1 ROM1 RP1 RP2 RPE65 RPGR RS1 CNNM4
More info about this panelAtaxia Panel Panel
By Blueprint Genetics Ataxia Panel that also includes the following genes: SACS SLC1A3 SLC20A2 SLC2A1 SLC9A6 SPG7 SPTBN2 STUB1 TWNK ACO2
More info about this panelCiliopathy Panel Panel
By Blueprint Genetics Ciliopathy Panel that also includes the following genes: SDCCAG8 CEP41 CFAP410 USP9X ZIC3 ARL6 NEK8 IFT122 IFT81 TMEM237
More info about this panelCongenital Hepatic Fibrosis Panel Panel
By Blueprint Genetics Congenital Hepatic Fibrosis Panel that also includes the following genes: CEP41 ARL6 NEK8 TMEM237 TRIM32 ZNF423 INVS DCDC2 WDR19 BBS7
More info about this panelBardet-Biedl Syndrome Panel Panel
By Blueprint Genetics Bardet-Biedl Syndrome Panel that also includes the following genes: SDCCAG8 ARL6 PNPLA6 TRIM32 BBS7 TTC8 BBS10 BBS12 C8orf37 WDPCP
More info about this panelMcKusick-Kaufman syndrome Panel
By Bioarray
This panel specifically test the MKKS gene.
More info about this panelMKKS Gene Sequencing and Deletion/Duplication Analysis Panel
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
This panel specifically test the MKKS gene.
More info about this panelMcKusick-Kaufman Syndrome (MKKS) Targeted Testing Panel
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
This panel specifically test the MKKS gene.
More info about this panelBARDET-BIEDL SYNDROME Panel
By Laboratorio de Genetica Clinica SL BARDET-BIEDL SYNDROME that also includes the following genes: ARL6 TRIM32 BBS7 TTC8 BBS10 BBS12 CEP290 BBS9 MKKS MKS1
More info about this panelBARDET-BIEDL SYNDROME (NGS) Panel
By Laboratorio de Genetica Clinica SL BARDET-BIEDL SYNDROME (NGS) that also includes the following genes: SDCCAG8 ARL6 TRIM32 IFT27 BBS7 TTC8 BBS10 BBS12 WDPCP BBIP1
More info about this panelMcKusick-Kaufman Syndrome, Sequencing MKKS Gene Panel
By Reference Laboratory Genetics
This panel specifically test the MKKS gene.
More info about this panelBardet-Biedl Syndrome , Panel Massive Sequencing (NGS) 18 Genes Panel
By Reference Laboratory Genetics Bardet-Biedl Syndrome , Panel Massive Sequencing (NGS) 18 Genes that also includes the following genes: SDCCAG8 ARL6 TRIM32 BBS7 TTC8 BBS10 BBS12 WDPCP BBIP1 CEP290
More info about this panelMcKusick-Kaufman Syndrome: gene sequencing Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the MKKS gene.
More info about this panelSyndromic Hirschsprung Disease: gene sequencing panel Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics Syndromic Hirschsprung Disease: gene sequencing panel that also includes the following genes: BDNF SDCCAG8 SOX10 ARL6 ZEB2 TRIM32 BBS7 TTC8 KIF1BP BBS10
More info about this panelBardet-Biedl Syndrome: gene sequencing panel Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics Bardet-Biedl Syndrome: gene sequencing panel that also includes the following genes: SDCCAG8 ARL6 TRIM32 IFT27 BBS7 TTC8 BBS10 BBS12 WDPCP BBIP1
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