FTL gene related symptoms and diseases
All the information presented here about the FTL gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,ORPHANET,NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to FTL gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Cataract | Common - Between 50% and 80% cases |
| Increased serum ferritin | Common - Between 50% and 80% cases |
| Intellectual disability | Uncommon - Between 30% and 50% cases |
| Anemia | Uncommon - Between 30% and 50% cases |
| Abnormality of metabolism/homeostasis | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with FTL gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Iron deficiency anemia
- Seizures
Rarely - Less than 30% cases
- Subcortical dementia
- Macrotia
- Clinodactyly of the 5th finger
- Abnormality of cardiovascular system morphology
- Short neck
- Downslanted palpebral fissures
And 103 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to FTL gene
Here you will find a list of rare diseases related to the FTL. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
NEUROFERRITINOPATHY
Alternate names
NEUROFERRITINOPATHY Is also known as neuroferritinopathy, ferritin-related neurodegeneration, hereditary ferritinopathy, adult basal ganglia disease, basal ganglia disease, adult-onset
Description
Neuroferritinopathy is a late-onset type of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by progressive chorea or dystonia and subtle cognitive deficits.
Most common symptoms of NEUROFERRITINOPATHY
- Intellectual disability
- Seizures
- Generalized hypotonia
- Ataxia
- Spasticity
More info about NEUROFERRITINOPATHY
HEREDITARY HYPERFERRITINEMIA-CATARACT SYNDROME
Alternate names
HEREDITARY HYPERFERRITINEMIA-CATARACT SYNDROME Is also known as hereditary hyperferritinemia with congenital cataracts, bonneau-beaumont syndrome, hhcs
Description
Hereditary hyperferritinemia with congenital cataracts is characterized by the association of early onset (although generally absent at birth) cataract with persistently raised plasma ferritin concentrations in the absence of iron overload.
Most common symptoms of HEREDITARY HYPERFERRITINEMIA-CATARACT SYNDROME
- Cataract
- Abnormality of metabolism/homeostasis
More info about HEREDITARY HYPERFERRITINEMIA-CATARACT SYNDROME
SOURCES: ORPHANET
HYPERFERRITINEMIA WITH OR WITHOUT CATARACT; HRFTC
Alternate names
HYPERFERRITINEMIA WITH OR WITHOUT CATARACT; HRFTC Is also known as hyperferritinemia-cataract syndrome, hyperferritinemia, hereditary, with congenital cataracts, hhcs
Most common symptoms of HYPERFERRITINEMIA WITH OR WITHOUT CATARACT; HRFTC
- Intellectual disability
- Short stature
- Hearing impairment
- Microcephaly
- Hypertelorism
More info about HYPERFERRITINEMIA WITH OR WITHOUT CATARACT; HRFTC
SOURCES: OMIM
L-FERRITIN DEFICIENCY
Most common symptoms of L-FERRITIN DEFICIENCY
- Seizures
- Cataract
- Anemia
- Alopecia
- Generalized-onset seizure
More info about L-FERRITIN DEFICIENCY
GENETIC HYPERFERRITINEMIA WITHOUT IRON OVERLOAD
Alternate names
GENETIC HYPERFERRITINEMIA WITHOUT IRON OVERLOAD Is also known as benign hyperferritinemia
Description
Genetic hyperferritinemia without iron overload is a rare biological anomaly defined as high serum ferritin levels without elevations of transferrin saturation, tissue or serum iron and characterized by an apparently asymptomatic clinical phenotype.
Most common symptoms of GENETIC HYPERFERRITINEMIA WITHOUT IRON OVERLOAD
- Cataract
- Fatigue
- Arthralgia
- Increased serum ferritin
- Fragile nails
More info about GENETIC HYPERFERRITINEMIA WITHOUT IRON OVERLOAD
SOURCES: ORPHANET
Search interest in FTL
Potential gene panels for FTL gene
Neuroferritinopathy, FLT, Sequencing Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University
This panel specifically test the FTL gene.
More info about this panel United States.
Neurodegeneration with Brain Iron Accumulation (NBIA) Panel, Sequencing Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Neurodegeneration with Brain Iron Accumulation (NBIA) Panel, Sequencing that also includes the following genes: SQSTM1 PANK2 TRIM32 FA2H CP C19orf12 DCAF17 WDR45 COASY ATP13A2
More info about this panel United States.
Movement Disorders Panel Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Movement Disorders Panel that also includes the following genes: SCP2 SGCE SLC20A2 SLC2A1 SLC6A3 SNCA SPR SQSTM1 SUCLA2 SUOX
More info about this panel United States.
Neurodegeneration with Brain Iron Accumulation (NBIA) Panel, Sequencing and Deletion/Duplication Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Neurodegeneration with Brain Iron Accumulation (NBIA) Panel, Sequencing and Deletion/Duplication that also includes the following genes: SQSTM1 PANK2 TRIM32 FA2H CP C19orf12 DCAF17 WDR45 COASY ATP13A2
More info about this panel United States.
Neurodegeneration with Brain Iron Accumulation (NBIA) Panel, Deletion/Duplication Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Neurodegeneration with Brain Iron Accumulation (NBIA) Panel, Deletion/Duplication that also includes the following genes: SQSTM1 PANK2 TRIM32 FA2H CP C19orf12 DCAF17 WDR45 COASY ATP13A2
More info about this panel United States.
FTL Sequencing Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center
This panel specifically test the FTL gene.
More info about this panel United States.
NBIA Deletion/Duplication Analysis Panel
United States.
By Genetic Services Laboratory University of Chicago NBIA Deletion/Duplication Analysis that also includes the following genes: PANK2 FA2H CP C19orf12 DCAF17 WDR45 COASY ATP13A2 FTL PLA2G6
More info about this panel United States.
NBIA Sequencing Panel Panel
United States.
By Genetic Services Laboratory University of Chicago NBIA Sequencing Panel that also includes the following genes: PANK2 FA2H CP C19orf12 DCAF17 WDR45 COASY ATP13A2 FTL PLA2G6
More info about this panel United States.
Dystonia Exome Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Dystonia Exome Panel that also includes the following genes: BCS1L SCN8A SCP2 SDHA SGCE SLC16A2 SLC20A2 SLC2A1 SLC6A3 SLC6A8
More info about this panel United States.
Ataxia Exome Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Ataxia Exome Panel that also includes the following genes: BCS1L RTN2 SACS SCN1A SCN2A SCN8A SCO1 SDHA SDHD SLC16A2
More info about this panel United States.
Hyperferritinemia Panel Panel
Argentina.
By Molecular Genetics Laboratory Centro de Investigaciones Endocrinologicas "Dr. Cesar Bergada" Hyperferritinemia Panel that also includes the following genes: SEC23B SLC40A1 TF TFR2 HAMP CDAN1 CP STEAP3 SLC25A38 ALAS2
More info about this panel Argentina.
FTL. Secuencing of the IRE region Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the FTL gene.
More info about this panel Spain.
Hyperferritinemia with/without cataract syndrome (sequence of the IRE region of FTL gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the FTL gene.
More info about this panel Portugal.
Parkinson disease (NGS panel for 33 genes) Panel
Portugal.
By CGC Genetics Parkinson disease (NGS panel for 33 genes) that also includes the following genes: SLC6A3 SNCA SNCAIP SNCB SYNJ1 TAF1 TH GIGYF2 UCHL1 VPS35
More info about this panel Portugal.
Hyperferritinemia-cataract syndrome (sequence analysis of FTL gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the FTL gene.
More info about this panel Portugal.
Neurodegeneration with brain iron accumulation (NBIA, sequence analysis of FTL gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the FTL gene.
More info about this panel Portugal.
Cataracts (NGS panel for 41 genes) Panel
Portugal.
By CGC Genetics Cataracts (NGS panel for 41 genes) that also includes the following genes: BFSP1 BFSP2 VIM WFS1 FYCO1 PXDN CHMP4B P3H2 AGK SLC16A12
More info about this panel Portugal.
Dystonia (NGS panel for 43 genes) Panel
Portugal.
By CGC Genetics Dystonia (NGS panel for 43 genes) that also includes the following genes: SGCE SLC2A1 SLC6A3 SMPD1 SPR TAF1 TH TIMM8A ACTB CACNA1B
More info about this panel Portugal.
Neurodegeneration with brain iron accumulation (NGS panel of 8 genes) Panel
Portugal.
By CGC Genetics Neurodegeneration with brain iron accumulation (NGS panel of 8 genes) that also includes the following genes: PANK2 FA2H C19orf12 WDR45 COASY ATP13A2 FTL PLA2G6
More info about this panel Portugal.
Hemochromatosis (NGS panel for 8 genes) Panel
Portugal.
By CGC Genetics Hemochromatosis (NGS panel for 8 genes) that also includes the following genes: BMP2 SLC40A1 TFR2 HAMP FTH1 FTL HFE HJV
More info about this panel Portugal.
Neurodegeneration with brain iron accumulation (NGS panel of 8 genes) Panel
Portugal.
By CGC Genetics Neurodegeneration with brain iron accumulation (NGS panel of 8 genes) that also includes the following genes: PANK2 FA2H C19orf12 WDR45 COASY ATP13A2 FTL PLA2G6
More info about this panel Portugal.
Hemochromatosis (NGS panel for 8 genes) Panel
Portugal.
By CGC Genetics Hemochromatosis (NGS panel for 8 genes) that also includes the following genes: BMP2 SLC40A1 TFR2 HAMP FTH1 FTL HFE HJV
More info about this panel Portugal.
FTL Sequencing Analysis Panel
Netherlands.
By Translational Metabolic Laboratory Radboud University Medical Centre
This panel specifically test the FTL gene.
More info about this panel Netherlands.
Hereditary Hemochromatosis Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Hereditary Hemochromatosis Sequencing Panel with CNV Detection that also includes the following genes: SLC40A1 TFR2 HAMP FTH1 FTL HFE HJV
More info about this panel United States.
Neurodegeneration with Brain Iron Accumulation and Infantile Neuroaxonal Dystrophy Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Neurodegeneration with Brain Iron Accumulation and Infantile Neuroaxonal Dystrophy Sequencing Panel with CNV Detection that also includes the following genes: PANK2 NALCN FA2H CP C19orf12 DCAF17 WDR45 COASY ATP13A2 FTL
More info about this panel United States.
Parkinson Disease and Parkinsonism Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Parkinson Disease and Parkinsonism Sequencing Panel with CNV Detection that also includes the following genes: SLC20A2 SLC6A3 SNCA SNCB SPG11 SPR SYNJ1 TAF1 TARDBP TWNK
More info about this panel United States.
Cataract Panel
Germany.
By MGZ Medical Genetics Center Cataract that also includes the following genes: BFSP1 BFSP2 SIX6 VIM WFS1 RAB18 FYCO1 JAM3 TBC1D20 CHMP4B
More info about this panel Germany.
Eye Diseases - panels Panel
Germany.
By MGZ Medical Genetics Center Eye Diseases - panels that also includes the following genes: BFSP1 BFSP2 SALL2 BMP4 BMP7 SHH SIX3 SIX6 FOXL2 SOX2
More info about this panel Germany.
Neurogenetic Disorders - panels Panel
Germany.
By MGZ Medical Genetics Center Neurogenetic Disorders - panels that also includes the following genes: BCS1L RTN2 RYR1 SACS SCN1A SCN1B SCN2A SCN8A SCO1 SCO2
More info about this panel Germany.
Epileptic Encephalopathy Panel
Germany.
By MGZ Medical Genetics Center Epileptic Encephalopathy that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SGCE SLC2A1 SPTAN1 CDKL5 STXBP1 SYNGAP1
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.
Neurodegeneration with Brain Iron Accumulation (NBIA) Panel
Germany.
By MGZ Medical Genetics Center Neurodegeneration with Brain Iron Accumulation (NBIA) that also includes the following genes: ATL1 SPAST PANK2 FA2H CP C19orf12 DCAF17 IBA57 WDR45 ATP13A2
More info about this panel Germany.
Epilepsy Panel
Germany.
By MGZ Medical Genetics Center Epilepsy that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCO1 SCO2 SDHA SDHB SDHC SDHD
More info about this panel Germany.
Cataract panel Panel
Germany.
By Centogene AG - the Rare Disease Company Cataract panel that also includes the following genes: BFSP1 BFSP2 VIM WFS1 UNC45B FYCO1 CHMP4B P3H2 VSX2 BCOR
More info about this panel Germany.
Hyperferritinemia-cataract syndrome Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the FTL gene.
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.
Parkinsons disease panel Panel
Germany.
By Centogene AG - the Rare Disease Company Parkinsons disease panel that also includes the following genes: SLC6A3 SNCA SNCB SPR SYNJ1 TAF1 TH GIGYF2 UCHL1 VPS35
More info about this panel Germany.
Neurodegeneration with Brain Iron Accumulation (NBIA) Panel Panel
Germany.
By CeGaT GmbH Neurodegeneration with Brain Iron Accumulation (NBIA) Panel that also includes the following genes: SCP2 REPS1 PANK2 FA2H CP C19orf12 DCAF17 SLC25A42 WDR45 COASY
More info about this panel Germany.
Hereditary Degenerative Syndromes Panel Panel
Germany.
By CeGaT GmbH Hereditary Degenerative Syndromes Panel that also includes the following genes: ATXN2 ATXN7 SLC16A2 SLC25A15 SLC6A3 SMPD1 SUCLA2 TAF1 TBP TIMM8A
More info about this panel Germany.
Parkinson all Panel Panel
Germany.
By CeGaT GmbH Parkinson all Panel that also includes the following genes: ATXN2 SLC6A3 SNCA SPG11 SPR SYNJ1 TAF1 TH VPS35 FBXO7
More info about this panel Germany.
Choreatic Movement Disorders Panel Panel
Germany.
By CeGaT GmbH Choreatic Movement Disorders Panel that also includes the following genes: ATXN1 ATXN2 ATXN7 TBP NKX2-1 FRRS1L JPH3 RNF216 ADCY5 C9orf72
More info about this panel Germany.
Cataract Panel Panel
Germany.
By CeGaT GmbH Cataract Panel that also includes the following genes: BFSP1 BFSP2 VIM FYCO1 PXDN CHMP4B P3H2 BCOR AGK SLC16A12
More info about this panel Germany.
Atypical Parkinson syndrome Panel Panel
Germany.
By CeGaT GmbH Atypical Parkinson syndrome Panel that also includes the following genes: ATXN2 SPG11 SYNJ1 TH FBXO7 DNAJC6 RAB39B ATP6AP2 ZFYVE26 SLC30A10
More info about this panel Germany.
Dystonia Plus Syndrome Panel Panel
Germany.
By CeGaT GmbH Dystonia Plus Syndrome Panel that also includes the following genes: SGCE SPR TAF1 TH BCAP31 TUBB4A SLC30A10 COX20 FTL GCH1
More info about this panel Germany.
Dystonia All Panel Panel
Germany.
By CeGaT GmbH Dystonia All Panel that also includes the following genes: SGCE SLC25A15 SLC2A1 SPR TAF1 TH TIMM8A CACNA1B ANO3 NPC2
More info about this panel Germany.
Single gene testing FTL Panel
Germany.
By CeGaT GmbH
This panel specifically test the FTL gene.
More info about this panel Germany.
Hereditary Hyperferritinemia-cataract syndrome (FTL) Panel
Germany.
By MVZ Dortmund Dr. Eberhard & Partner
This panel specifically test the FTL gene.
More info about this panel Germany.
Neuroferritinopathy (FTL, NBIA3) Panel
Germany.
By MVZ Dortmund Dr. Eberhard & Partner
This panel specifically test the FTL gene.
More info about this panel Germany.
Parkinson Disease Panel
Estonia.
By Asper Biogene Asper Biogene LLC Parkinson Disease that also includes the following genes: SLC6A3 SNCA SPR SYNJ1 TAF1 TH GIGYF2 UCHL1 VPS35 FBXO7
More info about this panel Estonia.
Cataract Panel
Estonia.
By Asper Biogene Asper Biogene LLC Cataract that also includes the following genes: BFSP1 BFSP2 SIX6 VIM UNC45B FYCO1 PXDN CHMP4B P3H2 VSX2
More info about this panel Estonia.
Neurodegeneration with Brain Iron Accumulation Panel
Estonia.
By Asper Biogene Asper Biogene LLC Neurodegeneration with Brain Iron Accumulation that also includes the following genes: PANK2 FA2H CP C19orf12 DCAF17 WDR45 COASY ATP13A2 FTL PLA2G6
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.
NGS Panel for Hemochromatosis and Hyperferritinemia /Hypoferritinemia Panel Panel
Spain.
By BLOODGENETICS BLOODGENETICS NGS Panel for Hemochromatosis and Hyperferritinemia /Hypoferritinemia Panel that also includes the following genes: BMP6 SLC40A1 TFR2 HAMP FTH1 FTL HFE HJV ATP4A
More info about this panel Spain.
NGS Panel for Neurodegeneration with Brain Iron Accumulation Disorders (NBIA) Panel
Spain.
By BLOODGENETICS BLOODGENETICS NGS Panel for Neurodegeneration with Brain Iron Accumulation Disorders (NBIA) that also includes the following genes: PANK2 FA2H CP C19orf12 DCAF17 WDR45 COASY ATP13A2 FTL PLA2G6
More info about this panel Spain.
Neuroferritinopathy Panel
Germany.
By Labor-MVZ Westmecklenburg Laboratory for Molecular Diagnostics
This panel specifically test the FTL gene.
More info about this panel Germany.
Hyperferritinemia-cataract syndrome Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the FTL gene.
More info about this panel Austria.
Neuroferritinopathy Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the FTL gene.
More info about this panel Austria.
Neuroferritinopathy, FTL, Sequencing Panel
United States.
By NBIA Testing Center Oregon Health & Science University
This panel specifically test the FTL gene.
More info about this panel United States.
Neurodegeneration with Brain Iron Accumulation (NBIA) Panel, Sequencing Panel
United States.
By NBIA Testing Center Oregon Health & Science University Neurodegeneration with Brain Iron Accumulation (NBIA) Panel, Sequencing that also includes the following genes: SCP2 SQSTM1 KMT2B PANK2 TRIM32 VPS13A MECR SLC39A14 FA2H CP
More info about this panel United States.
Neurodegeneration with Brain Iron Accumulation (NBIA) Panel, Sequencing and Deletion/Duplication Panel
United States.
By NBIA Testing Center Oregon Health & Science University Neurodegeneration with Brain Iron Accumulation (NBIA) Panel, Sequencing and Deletion/Duplication that also includes the following genes: SCP2 SQSTM1 KMT2B PANK2 TRIM32 VPS13A MECR SLC39A14 FA2H CP
More info about this panel United States.
Neurodegeneration with Brain Iron Accumulation (NBIA) Panel, Deletion/Duplication Panel
United States.
By NBIA Testing Center Oregon Health & Science University Neurodegeneration with Brain Iron Accumulation (NBIA) Panel, Deletion/Duplication that also includes the following genes: SQSTM1 PANK2 TRIM32 VPS13A SLC39A14 FA2H CP C19orf12 DCAF17 WDR45
More info about this panel United States.
Hyperferritinemia-cataract syndrome Panel
Slovakia.
By MedGene
This panel specifically test the FTL gene.
More info about this panel Slovakia.
Neuroferritinopathy Panel
Slovakia.
By MedGene
This panel specifically test the FTL gene.
More info about this panel Slovakia.
Invitae Neurodegeneration with Brain Iron Accumulation Panel Panel
United States.
By Invitae Invitae Neurodegeneration with Brain Iron Accumulation Panel that also includes the following genes: SQSTM1 PANK2 CP C19orf12 DCAF17 WDR45 COASY ATP13A2 FTL FUCA1
More info about this panel United States.
Hyperferritinemia-cataract syndrome: FTL gene regulatory region sequence analysis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the FTL gene.
More info about this panel Spain.
Neuroferritinopathy: FTL gene sequence analysis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the FTL gene.
More info about this panel Spain.
L-ferritin deficiency: FTL gene sequence analysis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the FTL gene.
More info about this panel Spain.
Neurodegeneration with Brain Iron Accumulation Disorders Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Neurodegeneration with Brain Iron Accumulation Disorders that also includes the following genes: PANK2 FA2H CP C19orf12 DCAF17 WDR45 ATP13A2 FTL PLA2G6
More info about this panel Spain.
FTL - Gene sequencing Panel
Netherlands.
By Genome Diagnostics VU University Medical Center
This panel specifically test the FTL gene.
More info about this panel Netherlands.
NGS panel - Parkinson Panel
Netherlands.
By Genome Diagnostics VU University Medical Center NGS panel - Parkinson that also includes the following genes: ATXN2 SLC18A2 SLC6A3 SNCA SPR SYNJ1 TAF1 TH GIGYF2 UCHL1
More info about this panel Netherlands.
NGS panel - Neurodegeneration with brain iron accumulation Panel
Netherlands.
By Genome Diagnostics VU University Medical Center NGS panel - Neurodegeneration with brain iron accumulation that also includes the following genes: PANK2 FA2H CP C19orf12 DCAF17 WDR45 COASY ATP13A2 FTL PLA2G6
More info about this panel Netherlands.
FTL Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the FTL gene.
More info about this panel United States.
Cataract Panel Panel
Finland.
By Blueprint Genetics Cataract Panel that also includes the following genes: BFSP1 BFSP2 TFAP2A VIM WFS1 WRN FYCO1 PXDN CHMP4B RAB3GAP1
More info about this panel Finland.
Hereditary hyperferritinemia with congenital cataracts Panel
Spain.
By Bioarray
This panel specifically test the FTL gene.
More info about this panel Spain.
Hemochromatosis NGS and Deletion and Duplication Panel Panel
United States.
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children Hemochromatosis NGS and Deletion and Duplication Panel that also includes the following genes: SLC40A1 TFR2 HAMP FTH1 FTL HFE HJV
More info about this panel United States.
Neurodegeneration with Brain Iron Accumulation NGS and Deletion/Duplication Panel Panel
United States.
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children Neurodegeneration with Brain Iron Accumulation NGS and Deletion/Duplication Panel that also includes the following genes: PANK2 FA2H CP C19orf12 DCAF17 WDR45 ATP13A2 FTL PLA2G6
More info about this panel United States.
FTL 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 FTL gene.
More info about this panel United States.
Next Generation Sequencing for Jaundice Associated Genes Variation Test Panel
Taiwan.
By National Taiwan University Hospital A1 Center National Taiwan University Hospital Next Generation Sequencing for Jaundice Associated Genes Variation Test that also includes the following genes: BCS1L SCO1 SLC10A1 SLC40A1 SLCO1A2 SLCO1B1 SLCO1B3 SLCO2B1 SLC25A13 SUCLG1
More info about this panel Taiwan.
HYPERFERRITINEMIA WITH CONGENITAL CATARACTS Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the FTL gene.
More info about this panel Spain.
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION (NBIA): NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL NEURODEGENERATION WITH BRAIN IRON ACCUMULATION (NBIA): NGS PANEL that also includes the following genes: PANK2 FA2H CP C19orf12 DCAF17 WDR45 COASY ATP13A2 FTL PLA2G6
More info about this panel Spain.
HEMOCHROMATOSIS NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL HEMOCHROMATOSIS NGS PANEL that also includes the following genes: BMP6 SLC40A1 TFR2 HAMP FTH1 FTL HFE HJV
More info about this panel Spain.
Neuroferritinopathy , Sequencing FTL Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the FTL gene.
More info about this panel Spain.
Hyperferritinemia and Cataract Syndrome, Sequencing Regulatory Zone FTL Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the FTL gene.
More info about this panel Spain.
Neurodegeneration with Brain Iron Accumulation (NBIA) , Panel Massive Sequencing (NGS) 10 Genes Panel
Spain.
By Reference Laboratory Genetics Neurodegeneration with Brain Iron Accumulation (NBIA) , Panel Massive Sequencing (NGS) 10 Genes that also includes the following genes: PANK2 FA2H CP C19orf12 DCAF17 WDR45 COASY ATP13A2 FTL PLA2G6
More info about this panel Spain.
Neurodegeneration Associated to Pantothenate Kinase , Panel Massive Sequencing (NGS) 9 Genes Panel
Spain.
By Reference Laboratory Genetics Neurodegeneration Associated to Pantothenate Kinase , Panel Massive Sequencing (NGS) 9 Genes that also includes the following genes: PANK2 FA2H CP C19orf12 DCAF17 WDR45 ATP13A2 FTL PLA2G6
More info about this panel Spain.
Neuroferritinopathy Panel
Germany.
By Labor Dr. Wisplinghoff
This panel specifically test the FTL gene.
More info about this panel Germany.
L-ferritin deficiency Panel
Germany.
By Labor Dr. Wisplinghoff
This panel specifically test the FTL gene.
More info about this panel Germany.
Hyperferritinemia cataract syndrome Panel
Germany.
By Labor Dr. Wisplinghoff
This panel specifically test the FTL gene.
More info about this panel Germany.
Neurodegeneration with Brain Iron Accumulation Disorders: gene sequencing panel Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics Neurodegeneration with Brain Iron Accumulation Disorders: gene sequencing panel that also includes the following genes: PANK2 FA2H CP C19orf12 DCAF17 WDR45 COASY ATP13A2 FTL PLA2G6
More info about this panel Canada.
Neuroferritinopathy: gene sequencing Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the FTL gene.
More info about this panel Canada.
If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like HLX-AS1 ALX3 LEFTY2 POMGNT2 HGD CLDN19 TCIRG1