ALMS1 gene related symptoms and diseases
All the information presented here about the ALMS1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,NCBIGENE,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to ALMS1 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Intellectual disability | Very Common - Between 80% and 100% cases |
| Insulin-resistant diabetes mellitus | Very Common - Between 80% and 100% cases |
| Oligomenorrhea | Very Common - Between 80% and 100% cases |
| Poor coordination | Very Common - Between 80% and 100% cases |
| Hyperventilation | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with ALMS1 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Alopecia of scalp
- Peripheral visual field loss
- Retinal atrophy
- Hypoventilation
- Broad foot
- Severe sensorineural hearing impairment
- Autoimmune thrombocytopenia
- Thoracic scoliosis
And 298 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to ALMS1 gene
Here you will find a list of rare diseases related to the ALMS1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
ALSTRÖM SYNDROME
Alternate names
ALSTRÖM SYNDROME Is also known as alss
Description
Alström syndrome (AS) is a multisystemic disorder characterized by cone-rod dystrophy, hearing loss, obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, dilated cardiomyopathy (DCM; see this term), and progressive hepatic and renal dysfunction.
Most common symptoms of ALSTRÖM SYNDROME
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Hearing impairment
More info about ALSTRÖM SYNDROME
Search interest in ALMS1
Potential gene panels for ALMS1 gene
MitoMet®Plus aCGH Analysis Panel
United States.
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 panel United States.
Hearing Loss Advanced Sequencing and CNV Evaluation Panel
United States.
By Athena Diagnostics Inc Hearing Loss Advanced Sequencing and CNV Evaluation that also includes the following genes: BCS1L ROR1 SALL1 SEMA3E SIX1 SIX5 SLC12A1 SLC19A2 SLC22A4 SNAI2
More info about this panel United States.
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 United States.
Comprehensive Cardiac Panel Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Comprehensive Cardiac Panel that also includes the following genes: RIT1 RYR2 SCN1B SCN2B SCN4B SCN5A SGCD SLC22A5 BRAF SNTA1
More info about this panel United States.
OtoSCOPE Panel
United States.
By Molecular Otolaryngology and Renal Research Laboratories University of Iowa Hospital and Clinics OtoSCOPE that also includes the following genes: ROR1 SIX1 SIX5 SLC22A4 SNAI2 SMPX SOX10 TBX1 TWNK TCOF1
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.
ALMS1 sequencing Panel
United States.
By Genetic Services Laboratory University of Chicago
This panel specifically test the ALMS1 gene.
More info about this panel United States.
ALSM1 deletion/duplication analysis Panel
United States.
By Genetic Services Laboratory University of Chicago
This panel specifically test the ALMS1 gene.
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.
OtoGenome Test for Hearing Loss (110 Genes) Panel
United States.
By Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine OtoGenome Test for Hearing Loss (110 Genes) that also includes the following genes: BCS1L SIX1 SNAI2 SMPX SOX10 TECTA TIMM8A TMPRSS3 USH1C USH2A
More info about this panel United States.
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 United States.
ALMS1. MLPA testing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the ALMS1 gene.
More info about this panel Spain.
ALMS1. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the ALMS1 gene.
More info about this panel Spain.
ALMS1. Sequencing of the exons 8, 10 and 16 Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the ALMS1 gene.
More info about this panel Spain.
Audiome (hearing loss panel) Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Audiome (hearing loss panel) that also includes the following genes: BCS1L SIX1 SNAI2 SMPX SOX10 SUCLA2 TECTA TIMM8A TMPRSS3 USH1C
More info about this panel United States.
Alstrom syndrome (sequence analysis of exons 8, 10 and 16 of ALMS1 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the ALMS1 gene.
More info about this panel Portugal.
Alstrom syndrome (sequence analysis of ALMS1 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the ALMS1 gene.
More info about this panel Portugal.
Syndromic deafness (NGS panel for 62 genes) Panel
Portugal.
By CGC Genetics Syndromic deafness (NGS panel for 62 genes) that also includes the following genes: SEMA3E SIX1 SIX5 SLC19A2 SNAI2 SOX10 TCOF1 TFAP2A TIMM8A TYR
More info about this panel Portugal.
Syndromic and non syndromic deafness (NGS panel for 127 genes) Panel
Portugal.
By CGC Genetics Syndromic and non syndromic deafness (NGS panel for 127 genes) that also includes the following genes: SEMA3E SIX1 SIX5 SLC12A1 SLC19A2 SNAI2 SMPX SOX10 TCOF1 TECTA
More info about this panel Portugal.
Bardet-Biedl syndrome (NGS panel for 22 genes) Panel
Portugal.
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 panel Portugal.
Alstrom syndrome (sequence analysis of exons 8, 10 and 16 of ALMS1 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the ALMS1 gene.
More info about this panel Portugal.
Ciliopathies (NGS panel for 90 genes) Panel
Portugal.
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 panel Portugal.
Alstrom syndrome Panel
Germany.
By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders
This panel specifically test the ALMS1 gene.
More info about this panel Germany.
Comprehensive Cardiology Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Comprehensive Cardiology Sequencing Panel with CNV Detection that also includes the following genes: RYR1 RYR2 SCN1B SCN2B SCN4B SCN5A SCO2 SGCD SGCG BRAF
More info about this panel United States.
Pan Cardiomyopathy Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Pan Cardiomyopathy Sequencing Panel with CNV Detection that also includes the following genes: RYR2 SCN5A SCO2 SGCD SGCG BRAF SOS1 TAZ TCAP TGFB3
More info about this panel United States.
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection Panel
United States.
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 panel United States.
Alstrom Syndrome via ALMS1 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the ALMS1 gene.
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.
Leber congenital amaurosis and related disorders Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Leber congenital amaurosis and related disorders Comprehensive panel that also includes the following genes: ROM1 RPE65 TULP1 RPGRIP1 CABP4 NMNAT1 CLUAP1 RD3 RDH12 SPATA7
More info about this panel United States.
Leber congenital amaurosis and related disorders Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Leber congenital amaurosis and related disorders Deletion / Duplication panel that also includes the following genes: ROM1 RPE65 TULP1 RPGRIP1 CABP4 NMNAT1 CLUAP1 RD3 RDH12 SPATA7
More info about this panel United States.
Leber congenital amaurosis and related disorders NGS panel Panel
United States.
By Connective Tissue Gene Tests Leber congenital amaurosis and related disorders NGS panel that also includes the following genes: ROM1 RPE65 TULP1 RPGRIP1 CABP4 NMNAT1 CLUAP1 RD3 RDH12 SPATA7
More info about this panel United States.
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 Germany.
Alstrom syndrome Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the ALMS1 gene.
More info about this panel Germany.
Bardet Biedl panel Panel
Germany.
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 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.
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 Germany.
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 Germany.
Bardet Biedl Syndrome Panel Panel
Germany.
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 panel Germany.
Syndromic Hearing Loss Panel Panel
Germany.
By CeGaT GmbH Syndromic Hearing Loss Panel that also includes the following genes: SEMA3E SIX1 SIX5 SLC19A2 SNAI2 SOX10 TCOF1 TFAP2A TIMM8A TYR
More info about this panel Germany.
Ichthyoses and related disorders of cornification Panel Panel
Germany.
By CeGaT GmbH Ichthyoses and related disorders of cornification Panel that also includes the following genes: SLC27A4 SNAP29 ST14 STS TAT TGM1 TGM5 VPS33B ATP2C1 NSDHL
More info about this panel Germany.
Bardet Biedl Syndrome Panel Panel
Germany.
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 panel Germany.
Bardet-Biedl Syndrome Panel Panel
Germany.
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 panel Germany.
Single gene testing ALMS1 Panel
Germany.
By CeGaT GmbH
This panel specifically test the ALMS1 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.
Eye diseases comprehensive panel Panel
Estonia.
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 panel Estonia.
Inherited Cardiovascular Diseases and Sudden Death Panel Panel
Spain.
By Health in Code Inherited Cardiovascular Diseases and Sudden Death Panel that also includes the following genes: MRPL3 RYR2 SCN10A SCN1B SCN2B SCN4B SCN5A BMPR1B BMPR2 SGCA
More info about this panel Spain.
Dilated Cardiomyopathy Panel Panel
Spain.
By Health in Code Dilated Cardiomyopathy Panel that also includes the following genes: RYR2 SCN5A SGCA SGCB SGCD SLC22A5 BRAF TAZ TBX20 TCAP
More info about this panel Spain.
Cardiomyopathies Panel Panel
Spain.
By Health in Code Cardiomyopathies Panel that also includes the following genes: MRPL3 RYR2 SCN5A SGCA SGCB SGCD SLC22A5 BRAF SLC25A4 SOS1
More info about this panel Spain.
Cardiovascular Diseases_General Panel Panel
Spain.
By Health in Code Cardiovascular Diseases_General Panel that also includes the following genes: RIT1 MRPL3 RRAS RYR1 RYR2 SAR1B BLK SCN10A SCN1B SCN2B
More info about this panel Spain.
Dilated Cardiomyopathy Panel Panel
Spain.
By Health in Code Dilated Cardiomyopathy Panel that also includes the following genes: TAZ TNNC1 TNNI3 TNNT2 TPM1 TTN ACTA1 ACTC1 CAV3 ANKRD1
More info about this panel Spain.
Arrhythmia General Panel Panel
Spain.
By Health in Code Arrhythmia General Panel that also includes the following genes: RIT1 MRPL3 RRAS RYR2 SCN10A SCN1B SCN2B SCN4B SCN5A SCO2
More info about this panel Spain.
Cardiomyopathies General Panel Panel
Spain.
By Health in Code Cardiomyopathies General Panel that also includes the following genes: RIT1 MRPL3 RRAS RYR2 SCN5A SCO2 SDHA SGCA SGCB SGCD
More info about this panel Spain.
Retinal Dystrophy Panel Panel
United States.
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 panel United States.
ALMS1 single-gene sequencing Panel
United States.
By Molecular Vision Laboratory
This panel specifically test the ALMS1 gene.
More info about this panel United States.
Invitae Congenital Heart Defects and Heterotaxy Panel Panel
United States.
By Invitae Invitae Congenital Heart Defects and Heterotaxy Panel that also includes the following genes: RIT1 RPGR BRAF SOS1 SPAG1 TBX1 TBX5 RSPH1 ZIC3 CFAP298
More info about this panel United States.
Invitae Congenital Heart Disease Panel Panel
United States.
By Invitae Invitae Congenital Heart Disease Panel that also includes the following genes: RIT1 BRAF SOS1 TBX1 TBX5 ZIC3 NSD1 ACTC1 CRELD1 CBL
More info about this panel United States.
Alström syndrome:ALMS1 gene sequence analysis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the ALMS1 gene.
More info about this panel Spain.
Bardet-Biedl Syndrome: Sequencing Panel Panel
United States.
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 panel United States.
Eye Disorders: Comprehensive Sequencing Panel Panel
United States.
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 panel United States.
Hearing Loss: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Hearing Loss: Sequencing Panel that also includes the following genes: RPS6KA3 SALL1 SIX1 SIX5 SMPX SOX10 BTD TCOF1 TECTA TIMM8A
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.
Bardet-Biedl Syndrome: Deletion/Duplication Panel Panel
United States.
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 panel United States.
Eye Disorders: Deletion/Duplication Panel Panel
United States.
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 panel United States.
Familial Cardiomyopathy Full Gene Sequencing Panel Panel
United States.
By Integrated Genetics Westborough Integrated Genetics Familial Cardiomyopathy Full Gene Sequencing Panel that also includes the following genes: RYR2 SCN5A SGCD TAZ TCAP TGFB3 TMPO TNNC1 TNNI3 TNNT2
More info about this panel United States.
Ciliopathies NGS Panel Panel
United States.
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 panel United States.
Diabetes-Obesity NGS Panel Panel
United States.
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 panel United States.
ALMS1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the ALMS1 gene.
More info about this panel United States.
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 United States.
Comprehensive Hearing Loss and Deafness Panel Panel
Finland.
By Blueprint Genetics Comprehensive Hearing Loss and Deafness Panel that also includes the following genes: BCS1L RPS6KA3 SALL1 SEMA3E SIX1 SIX5 SLC19A2 SNAI2 SMPX SOX10
More info about this panel Finland.
Cardiomyopathy Panel Panel
Finland.
By Blueprint Genetics Cardiomyopathy Panel that also includes the following genes: RIT1 RRAS RYR2 SCN5A SCNN1B SCNN1G SCO2 SDHA SGCA SGCB
More info about this panel Finland.
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.
Retinal Dystrophy Panel Panel
Finland.
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 panel Finland.
Leber Congenital Amaurosis Panel Panel
Finland.
By Blueprint Genetics Leber Congenital Amaurosis Panel that also includes the following genes: RPE65 CWC27 TULP1 RPGRIP1 CABP4 NMNAT1 RD3 RDH12 SPATA7 CNGA3
More info about this panel Finland.
Syndromic Hearing Loss Panel Panel
Finland.
By Blueprint Genetics Syndromic Hearing Loss Panel that also includes the following genes: BCS1L SALL1 SEMA3E SIX1 SIX5 SLC19A2 SNAI2 SOX10 BTD TWNK
More info about this panel Finland.
Comprehensive Cardiology Panel Panel
Finland.
By Blueprint Genetics Comprehensive Cardiology Panel that also includes the following genes: RIT1 RRAS RYR2 SCN10A SCN1B SCN5A SCNN1B SCNN1G SCO2 SDHA
More info about this panel Finland.
Hyperlipidemia Panel Panel
Finland.
By Blueprint Genetics Hyperlipidemia Panel that also includes the following genes: ABCG5 ABCG8 LMF1 APOA5 LDLRAP1 CREB3L3 PCSK9 GPIHBP1 ALMS1 APOC2
More info about this panel Finland.
Dilated Cardiomyopathy (DCM) Panel Panel
Finland.
By Blueprint Genetics Dilated Cardiomyopathy (DCM) Panel that also includes the following genes: SCN5A TAZ TBX20 TBX5 TCAP TNNC1 TNNI3 TNNT2 TPM1 TTN
More info about this panel Finland.
Ciliopathy Panel Panel
Finland.
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 panel Finland.
Bardet-Biedl Syndrome Panel Panel
Finland.
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 panel Finland.
Almstr���¶m Syndrome Panel
Spain.
By Bioarray
This panel specifically test the ALMS1 gene.
More info about this panel Spain.
ALSTROM SYNDROME; ALMS Panel
Spain.
By Bioarray
This panel specifically test the ALMS1 gene.
More info about this panel Spain.
ALSTROM SYNDROME Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the ALMS1 gene.
More info about this panel Spain.
BARDET-BIEDL SYNDROME (NGS) Panel
Spain.
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 panel Spain.
Alstrom syndrome Panel
Canada.
By LifeLabs Genetics
This panel specifically test the ALMS1 gene.
More info about this panel Canada.
Alstrom Syndrome, Sequencing ALMS1 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the ALMS1 gene.
More info about this panel Spain.
Phosphorus Dilated Cardiomyopathy Including Recessive Pediatric Syndromes Panel Panel
United States.
By Phosphorus Diagnostics LLC Phosphorus Dilated Cardiomyopathy Including Recessive Pediatric Syndromes Panel that also includes the following genes: RYR2 SCN5A SDHA SGCD SLC22A5 TAZ TCAP TNNC1 TNNI3 TNNT2
More info about this panel United States.
Phosphorus Pan Cardiomyopathy Including Recessive Pediatric Syndromes Panel Panel
United States.
By Phosphorus Diagnostics LLC Phosphorus Pan Cardiomyopathy Including Recessive Pediatric Syndromes Panel that also includes the following genes: RIT1 RRAS RYR2 SCN5A SDHA SGCD SLC22A5 BRAF SOS1 SOS2
More info about this panel United States.
Phosphorus Pan Arrhythmia and Cardiomyopathy Including Rasopathies and Recessive Pediatric Syndromes Panel Panel
United States.
By Phosphorus Diagnostics LLC Phosphorus Pan Arrhythmia and Cardiomyopathy Including Rasopathies and Recessive Pediatric Syndromes Panel that also includes the following genes: RIT1 RRAS RYR2 SCN10A SCN4B SCN5A SDHA SGCD SLC22A5 BRAF
More info about this panel United States.
Phosphorus Pan Cardiomyopathy Including Rasopathies and Recessive Pediatric Syndromes Panel Panel
United States.
By Phosphorus Diagnostics LLC Phosphorus Pan Cardiomyopathy Including Rasopathies and Recessive Pediatric Syndromes Panel that also includes the following genes: RIT1 RRAS RYR2 SCN5A SDHA SGCD SLC22A5 BRAF SOS1 SOS2
More info about this panel United States.
Phosphorus Pan Arrhythmia and Cardiomyopathy Including Recessive Pediatric Syndromes Panel Panel
United States.
By Phosphorus Diagnostics LLC Phosphorus Pan Arrhythmia and Cardiomyopathy Including Recessive Pediatric Syndromes Panel that also includes the following genes: RYR2 SCN10A SCN4B SCN5A SDHA SGCD SLC22A5 SNTA1 TAZ TCAP
More info about this panel United States.
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