Alport Syndrome, Autosomal Recessive

Description

Alport syndrome is a hereditary disorder of the basement membrane, resulting in a glomerulonephropathy causing renal failure. Progressive deafness and ocular anomalies may also occur (Mochizuki et al., 1994; Colville et al. (1997)). For a general phenotypic description of Alport syndrome, see the X-linked dominant form (OMIM ). Approximately 85% of cases of Alport syndrome are X-linked and about 15% are autosomal recessive; autosomal dominant inheritance (OMIM ) is rare (van der Loop et al., 2000).See also benign familial hematuria (BFH ), a similar but milder disorder.

Clinical Features

Top most frequent phenotypes and symptoms related to Alport Syndrome, Autosomal Recessive

  • Hearing impairment
  • Failure to thrive
  • Sensorineural hearing impairment
  • Cataract
  • Nevus
  • Hypertension
  • Myopia
  • Renal insufficiency
  • Proteinuria
  • Nephrotic syndrome
And another 9 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

Not enough data available about incidence and published cases.


Mendelian

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Alport Syndrome, Autosomal Recessive Recommended genes panels

Panel Name, Specifity and genes Tested/covered
COL4A4 DNA Sequencing Test.

By Athena Diagnostics Inc in United States.

COL4A4
Specificity
100 %
Genes
50 %
Complete Alport Syndrome Evaluation.

By Athena Diagnostics Inc in United States.

COL4A3, COL4A4, COL4A5
Specificity
67 %
Genes
100 %
Hearing Loss Advanced Sequencing and CNV Evaluation.

By Athena Diagnostics Inc in United States.

ABHD12, USH1G, USH1C, ANKH, BCS1L, EYA1, COL2A1, PDZD7, EYA4, HSD17B4, OPA1, WFS1, NDP, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23 , (...)

View the complete list with 151 more genes
Specificity
2 %
Genes
100 %
NGS Hearing Loss Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

USH1G, USH1C, EYA1, EYA4, HSD17B4, WFS1, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, DIABLO, MSRB3, KARS, MYO7A, TIMM8A, MAN2B1, HARS2 , (...)

View the complete list with 71 more genes
Specificity
3 %
Genes
100 %
Alport syndrome panel.

By Collagen Diagnostic Laboratory University of Washington in United States.

COL4A3, COL4A4, COL4A5
Specificity
67 %
Genes
100 %
OtoSCOPE.

By Molecular Otolaryngology and Renal Research Laboratories University of Iowa Hospital and Clinics in United States.

USH1G, USH1C, TWNK, EYA1, COL2A1, PDZD7, EYA4, HSD17B4, OPA1, WFS1, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, DIABLO, MSRB3, KARS , (...)

View the complete list with 132 more genes
Specificity
2 %
Genes
100 %
Hearing Loss Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

ABHD12, USH1G, USH1C, ANKH, BTD, EYA1, COL2A1, PDZD7, EYA4, HSD17B4, WFS1, FOXC1, PITX2, NDP, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN , (...)

View the complete list with 102 more genes
Specificity
2 %
Genes
100 %
OtoGenome Test for Hearing Loss (110 Genes).

By Laboratory for Molecular Medicine Laboratory for Molecular Medicine (Partners HealthCare Personalized Medicine) in United States.

USH1G, USH1C, BCS1L, EYA1, PDZD7, EYA4, HSD17B4, WFS1, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, HARS, DIABLO, MSRB3, KARS, MYO7A , (...)

View the complete list with 90 more genes
Specificity
2 %
Genes
100 %
Exome PLUS Proteinuria/FSGS & Hematuria.

By Laboratory for Molecular Medicine Laboratory for Molecular Medicine (Partners HealthCare Personalized Medicine) in United States.

WT1, ALMS1, LMX1B, PAX2, GLA, TSC2, TSC1, COL4A3, NPHS2, NPHS1, INF2, COL4A4, LAMB2, ACTN4, PLCE1, TRPC6, COL4A5, MYH9, CFB, CFI , (...)

View the complete list with 12 more genes
Specificity
7 %
Genes
100 %
COL4A4. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

COL4A4
Specificity
100 %
Genes
50 %
COL4A3, COL4A4, COL4A5. NextGeneDx.Complete sequencing by NGS.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

COL4A3, COL4A4, COL4A5
Specificity
67 %
Genes
100 %
COL4A3, COL4A4. NextGeneDx.Complete sequencing by NGS.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

COL4A3, COL4A4
Specificity
100 %
Genes
100 %
Alport Syndrome Del/Dup Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

COL4A3, COL4A4, COL4A5
Specificity
67 %
Genes
100 %
Alport Syndrome Seq Analysis.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

COL4A3, COL4A4, COL4A5
Specificity
67 %
Genes
100 %
Alport Syndrome Seq + Del/Dup Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

COL4A3, COL4A4, COL4A5
Specificity
67 %
Genes
100 %
Audiome (hearing loss panel).

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

ABHD12, USH1G, USH1C, BCS1L, EYA1, COL2A1, PDZD7, EYA4, HSD17B4, WFS1, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, HARS, MSRB3, SUCLA2 , (...)

View the complete list with 86 more genes
Specificity
2 %
Genes
100 %
Alport Syndrome (sequence analysis of COL4A4 gene).

By CGC Genetics in Portugal.

COL4A4
Specificity
100 %
Genes
50 %
Alport syndrome (NGS panel for 3 genes).

By CGC Genetics in Portugal.

COL4A3, COL4A4, COL4A5
Specificity
67 %
Genes
100 %
Syndromic deafness (NGS panel for 62 genes).

By CGC Genetics in Portugal.

ABHD12, USH1G, USH1C, ANKH, EYA1, COL2A1, TYR, PDZD7, WFS1, NDP, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, MYO7A, TIMM8A, MANBA , (...)

View the complete list with 42 more genes
Specificity
4 %
Genes
100 %
Syndromic and non syndromic deafness (NGS panel for 127 genes).

By CGC Genetics in Portugal.

ABHD12, USH1G, USH1C, ANKH, EYA1, COL2A1, TYR, PDZD7, EYA4, WFS1, NDP, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, DIABLO, MSRB3 , (...)

View the complete list with 107 more genes
Specificity
2 %
Genes
100 %
Alport syndrome, autosomal recessive.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.

COL4A3, COL4A4
Specificity
100 %
Genes
100 %
Alport Syndrome.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.

COL4A3, COL4A4, COL4A5
Specificity
67 %
Genes
100 %
Nephrotic Syndrome (NS)/Focal Segmental Glomerulosclerosis (FSGS) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

WT1, PDSS2, COQ6, COQ2, CUBN, LMX1B, PAX2, COL4A3, NPHS2, NPHS1, INF2, COL4A4, LAMB2, ACTN4, PLCE1, TRPC6, COL4A5, SCARB2, MAGI2, COL4A6 , (...)

View the complete list with 29 more genes
Specificity
5 %
Genes
100 %
Alport Syndrome (AS) Sequencing Panel.

By PreventionGenetics PreventionGenetics in United States.

COL4A3, COL4A4, COL4A5, COL4A6
Specificity
50 %
Genes
100 %
Alport Syndrome (AS) via the COL4A4 Gene.

By PreventionGenetics PreventionGenetics in United States.

COL4A4
Specificity
100 %
Genes
50 %
Alport syndrome Comprehensive panel.

By Connective Tissue Gene Tests in United States.

COL4A3, COL4A4, COL4A5, COL4A6
Specificity
50 %
Genes
100 %
Alport syndrome Deletion/ Duplication panel.

By Connective Tissue Gene Tests in United States.

COL4A3, COL4A4, COL4A5, COL4A6
Specificity
50 %
Genes
100 %
Alport syndrome NGS panel.

By Connective Tissue Gene Tests in United States.

COL4A3, COL4A4, COL4A5, COL4A6
Specificity
50 %
Genes
100 %
Nephrotic syndrome and related disorders Comprehensive panel.

By Connective Tissue Gene Tests in United States.

WT1, PDSS2, COQ6, COQ2, CUBN, LMX1B, PAX2, COL4A3, NPHS2, NPHS1, INF2, COL4A4, LAMB2, ACTN4, PLCE1, TRPC6, COL4A5, SCARB2, MAGI2, COL4A6 , (...)

View the complete list with 22 more genes
Specificity
5 %
Genes
100 %
Nephrotic syndrome and related disorders NGS panel.

By Connective Tissue Gene Tests in United States.

WT1, PDSS2, COQ6, COQ2, CUBN, LMX1B, PAX2, COL4A3, NPHS2, NPHS1, INF2, COL4A4, LAMB2, ACTN4, PLCE1, TRPC6, COL4A5, SCARB2, MAGI2, COL4A6 , (...)

View the complete list with 22 more genes
Specificity
5 %
Genes
100 %
Nephrotic syndrome and related disorders Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

WT1, PDSS2, COQ6, COQ2, CUBN, LMX1B, PAX2, COL4A3, NPHS2, NPHS1, INF2, COL4A4, LAMB2, ACTN4, PLCE1, TRPC6, COL4A5, SCARB2, MAGI2, COL4A6 , (...)

View the complete list with 22 more genes
Specificity
5 %
Genes
100 %
Alport syndrome, recessive.

By Institute of Human Genetics Cologne University in Germany.

COL4A4
Specificity
100 %
Genes
50 %
Hereditary kidney disorders - different panels.

By Institute of Human Genetics Cologne University in Germany.

VHL, ACAT1, ARG1, ATP7B, AUH, BCS1L, INVS, HNF1A, MMACHC, EYA1, LRP5, SLC34A1, WT1, PAX6, SDHAF2, HNF1B, RET, INPP5E, CPS1, GLB1 , (...)

View the complete list with 391 more genes
Specificity
1 %
Genes
100 %
Nephrology Endocrinology and Electrolytes - panels.

By MGZ Medical Genetics Center in Germany.

VHL, ALPL, HNF1A, NEUROD1, EYA1, WT1, HNF1B, RET, OCRL, GCK, COQ9, PDSS2, COQ6, CYP24A1, COQ2, AGXT, SLC3A1, LMX1B, PAX2, GLA , (...)

View the complete list with 97 more genes
Specificity
2 %
Genes
100 %
Alport syndrome.

By Bioscientia GmbH Center for Human Genetics in Germany.

COL4A3, COL4A4, COL4A5
Specificity
67 %
Genes
100 %
Alport syndrome, autosomal dominant/ autosomal recessive.

By Bioscientia GmbH Center for Human Genetics in Germany.

COL4A3, COL4A4
Specificity
100 %
Genes
100 %
Alport syndrome.

By Synlab MVZ Humane Genetik München Synlab MVZ Humane Genetik München in Germany.

COL4A3, COL4A4, COL4A5
Specificity
67 %
Genes
100 %
Alport syndrome, AR.

By Centogene AG - the Rare Disease Company in Germany.

COL4A4
Specificity
100 %
Genes
50 %
Alport syndrome, AR.

By Centogene AG - the Rare Disease Company in Germany.

COL4A4
Specificity
100 %
Genes
50 %
Alport syndrome panel.

By Centogene AG - the Rare Disease Company in Germany.

COL4A3, COL4A4, COL4A5
Specificity
67 %
Genes
100 %
Syndromic Hearing Loss Panel.

By CeGaT GmbH in Germany.

ABHD12, USH1G, USH1C, ANKH, EYA1, COL2A1, TYR, PDZD7, WFS1, NDP, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, MYO7A, TIMM8A, MANBA , (...)

View the complete list with 42 more genes
Specificity
4 %
Genes
100 %
Alport Syndrome Panel.

By CeGaT GmbH in Germany.

COL4A3, COL4A4, COL4A5, CD151, MYH9, EIF2AK3
Specificity
34 %
Genes
100 %
Alport syndrome.

By Laboratory of Human Genetics GENOMED Health Care Center in Poland.

COL4A3, COL4A4, COL4A5
Specificity
67 %
Genes
100 %
Alport Syndrome.

By Asper Biogene Asper Biogene LLC in Estonia.

COL4A3, COL4A4, COL4A5
Specificity
67 %
Genes
100 %
Vitreoretinopathy panel.

By Molecular Vision Laboratory in United States.

LRP5, COL2A1, NDP, KCNJ13, TSPAN12, FZD4, COL4A3, COL4A4, COL4A5, COL9A1, COL9A2, COL11A1, COL11A2, ZNF408, KIF11, COL18A1, VCAN, ATOH7, CAPN5
Specificity
11 %
Genes
100 %
COL4A4 Alport Syndrome and Thin Basement Membrane Nephropathy.

By Clinical Genomics Maastricht University Medical Centre in Netherlands.

COL4A4
Specificity
100 %
Genes
50 %
qCarrier Plus.

By Quantitative Genomic Medicine Laboratories, SL in Spain.

F2, F5, FMR1, MTHFR, MCCC1, MCCC2, ABCB11, ACADM, ACADS, AGL, ACADVL, ACAT1, AIPL1, ALDOB, USH1G, PC, USH1C, ARG1, HLCS, BTD , (...)

View the complete list with 280 more genes
Specificity
1 %
Genes
50 %
ALPORT, SYNDROME.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

COL4A3, COL4A4, COL4A5
Specificity
67 %
Genes
100 %
Alport syndrome: COL4A4 gene sequence analysis (DNA).

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

COL4A4
Specificity
100 %
Genes
50 %
Hearing Loss: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ABHD12, USH1G, USH1C, BTD, EYA1, COL2A1, EYA4, HSD17B4, OPA1, WFS1, FOXC1, PITX2, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, DIABLO , (...)

View the complete list with 111 more genes
Specificity
2 %
Genes
100 %
Alport Syndrome NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

COL4A3, COL4A4, COL4A5
Specificity
67 %
Genes
100 %
COL4A4.

By Fulgent Genetics Fulgent Genetics in United States.

COL4A4
Specificity
100 %
Genes
50 %
KidneySeq - 264 Genes.

By Iowa Institute of Human Genetics University of Iowa in United States.

TTR, VHL, ATP7B, INVS, EYA1, SLC34A1, WT1, HNF1B, RET, INPP5E, CC2D2A, OCRL, JAG1, HPRT1, TMEM67, ARL6, NPHP3, NPHP1, MKKS, CEP290 , (...)

View the complete list with 232 more genes
Specificity
1 %
Genes
100 %
Nephrotic Syndrome Panel.

By Blueprint Genetics in Finland.

WT1, COQ2, LMX1B, COL4A3, NPHS2, NPHS1, INF2, COL4A4, LAMB2, ACTN4, PLCE1, TRPC6, COL4A5, SCARB2, MAGI2, MYH9, CD2AP, DGKE, APOL1, TTC21B , (...)

View the complete list with 16 more genes
Specificity
6 %
Genes
100 %
Comprehensive Hearing Loss and Deafness Panel.

By Blueprint Genetics in Finland.

ABHD12, USH1G, USH1C, ANKH, BTD, BCS1L, TWNK, EYA1, COL2A1, TYR, PDZD7, EYA4, HSD17B4, TRMU, WFS1, NDP, ADGRV1, CLRN1, USH2A, PCDH15 , (...)

View the complete list with 159 more genes
Specificity
2 %
Genes
100 %
Syndromic Hearing Loss Panel.

By Blueprint Genetics in Finland.

ABHD12, USH1G, USH1C, ANKH, BTD, BCS1L, TWNK, EYA1, COL2A1, TYR, PDZD7, WFS1, NDP, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23 , (...)

View the complete list with 66 more genes
Specificity
3 %
Genes
100 %
Alport Syndrome Panel.

By Blueprint Genetics in Finland.

COL4A3, COL4A4, COL4A5, CD151, COL4A6, MYH9
Specificity
34 %
Genes
100 %
Alport syndrome.

By Bioarray in Spain.

COL4A4
Specificity
100 %
Genes
50 %
CarrierMap.

By Recombine in United States.

FMR1, MTHFR, MCCC1, MCCC2, ABCB11, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOB, PC, USH1C, ALPL, ARG1, HLCS, ATP7A, BTD, ATP7B, BCKDHA , (...)

View the complete list with 281 more genes
Specificity
1 %
Genes
100 %
Alport Syndrome Gene Set.

By Genomics and Pathology Services Washington University in St. Louis in United States.

COL4A3, COL4A4, COL4A5
Specificity
67 %
Genes
100 %
Nephrotic Syndrome and Focal Segmental Glomerulosclerosis Gene Set.

By Genomics and Pathology Services Washington University in St. Louis in United States.

WT1, PDSS2, COQ6, COQ2, CUBN, LMX1B, COL4A3, NPHS2, NPHS1, INF2, COL4A4, LAMB2, ACTN4, PLCE1, TRPC6, COL4A5, SCARB2, MYH9, MEFV, CD2AP , (...)

View the complete list with 13 more genes
Specificity
7 %
Genes
100 %
ALPORT SYNDROME.

By Laboratorio de Genetica Clinica SL in Spain.

COL4A3, COL4A4, COL4A5
Specificity
67 %
Genes
100 %
Alport & Stickler syndrome hearing loss panel.

By LifeLabs Genetics in Canada.

COL2A1, COL4A3, COL4A4, COL4A5, COL9A1, COL9A2, COL11A2, EDNRB
Specificity
25 %
Genes
100 %
Alport syndrome panel.

By LifeLabs Genetics in Canada.

COL4A3, COL4A4, COL4A5
Specificity
67 %
Genes
100 %
Alport Syndrome, Massive Sequencing (NGS) COL4A5 , COL4A3, COL4A4 Genes.

By Reference Laboratory Genetics in Spain.

COL4A3, COL4A4, COL4A5
Specificity
67 %
Genes
100 %
Alport Syndrome , Deletions-Duplications (MLPA) COL4A4 Gene.

By Reference Laboratory Genetics in Spain.

COL4A4
Specificity
100 %
Genes
50 %
Alport Syndrome, Sequencing COL4A4 Gene.

By Reference Laboratory Genetics in Spain.

COL4A4
Specificity
100 %
Genes
50 %
Benign Familial Hematuria, Massive Sequencing COL4A3, COL4A4 Genes.

By Reference Laboratory Genetics in Spain.

COL4A3, COL4A4
Specificity
100 %
Genes
100 %
GeneAware Complete Panel Version 2 (Female).

By Baylor Miraca Genetics Laboratories in United States.

FMR1, UBE3A, ACADM, AGL, ACADVL, ALDOB, PC, USH1C, ALPL, BTD, ATP7B, BCKDHA, BCKDHB, BCS1L, GAA, HBB, MMACHC, SLC37A4, HSD17B4, CPT2 , (...)

View the complete list with 139 more genes
Specificity
1 %
Genes
50 %
GeneAware Complete Panel Version 2 (Male).

By Baylor Miraca Genetics Laboratories in United States.

UBE3A, ACADM, AGL, ACADVL, ALDOB, PC, USH1C, ALPL, BTD, ATP7B, BCKDHA, BCKDHB, BCS1L, GAA, HBB, MMACHC, SLC37A4, HSD17B4, CPT2, GNPTAB , (...)

View the complete list with 129 more genes
Specificity
1 %
Genes
50 %
GeneAware Ashkenazi Jewish Panel Version 2 (Female).

By Baylor Miraca Genetics Laboratories in United States.

FMR1, ATP7B, BCKDHB, CPT2, CLRN1, PCDH15, DLD, SMPD1, DHDDS, FAH, G6PC, HEXA, GALT, PMM2, BBS2, ASPA, ELP1, CFTR, FANCC, GBA , (...)

View the complete list with 19 more genes
Specificity
3 %
Genes
50 %
GeneAware Ashkenazi Jewish Panel Version 2 (Male).

By Baylor Miraca Genetics Laboratories in United States.

ATP7B, BCKDHB, CPT2, CLRN1, PCDH15, DLD, SMPD1, DHDDS, FAH, G6PC, HEXA, GALT, PMM2, BBS2, ASPA, ELP1, CFTR, FANCC, GBA, BLM , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
50 %
COL4A3 DNA Sequencing Test.

By Athena Diagnostics Inc in United States.

COL4A3
Specificity
100 %
Genes
50 %
COL4A3. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

COL4A3
Specificity
100 %
Genes
50 %
Alport Syndrome (sequence analysis of COL4A3 gene).

By CGC Genetics in Portugal.

COL4A3
Specificity
100 %
Genes
50 %
Alport syndrome, autosomal dominant.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.

COL4A3
Specificity
100 %
Genes
50 %
Alport Syndrome (AS) via COL4A3 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

COL4A3
Specificity
100 %
Genes
50 %
Alport syndrome, recessive.

By Institute of Human Genetics Cologne University in Germany.

COL4A3
Specificity
100 %
Genes
50 %
Alport syndrome, autosomal dominant/ autosomal recessive.

By Bioscientia GmbH Center for Human Genetics in Germany.

COL4A3
Specificity
100 %
Genes
50 %
Alport syndrome, AR.

By Centogene AG - the Rare Disease Company in Germany.

COL4A3
Specificity
100 %
Genes
50 %
Alport syndrome, AR.

By Centogene AG - the Rare Disease Company in Germany.

COL4A3
Specificity
100 %
Genes
50 %
Single gene testing COL4A3.

By CeGaT GmbH in Germany.

COL4A3
Specificity
100 %
Genes
50 %
Alport syndrome: COL4A3 gene sequence analysis (DNA).

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

COL4A3
Specificity
100 %
Genes
50 %
Alport Syndrome, COL4A3-related.

By Integrated Genetics Westborough Integrated Genetics in United States.

COL4A3
Specificity
100 %
Genes
50 %
Inheritest NGS, Ashkenazi Jewish Ancestry Panel.

By Integrated Genetics Westborough Integrated Genetics in United States.

FMR1, ATP7B, BCKDHA, BCKDHB, CPT2, CLRN1, PCDH15, DLD, SMPD1, DHDDS, FAH, G6PC, HEXA, GALT, PMM2, BBS2, ASPA, ELP1, CFTR, FANCC , (...)

View the complete list with 18 more genes
Specificity
3 %
Genes
50 %
Inheritest NGS, Comprehensive.

By Integrated Genetics Westborough Integrated Genetics in United States.

FMR1, ACADM, AGL, ACADVL, ACAT1, ALDOB, ALPL, HLCS, ATP7B, BCKDHA, BCKDHB, BCS1L, GAA, HBB, MMACHC, SLC37A4, HSD17B4, CPS1, CPT2, GNPTAB , (...)

View the complete list with 120 more genes
Specificity
1 %
Genes
50 %
COL4A3.

By Fulgent Genetics Fulgent Genetics in United States.

COL4A3
Specificity
100 %
Genes
50 %
Alport syndrome.

By Bioarray in Spain.

COL4A3
Specificity
100 %
Genes
50 %
BENIGN FAMILIAL HEMATURIA.

By Laboratorio de Genetica Clinica SL in Spain.

COL4A3, CFH
Specificity
50 %
Genes
50 %
Alport Syndrome , Deletions-Duplications (MLPA) COL4A3 Gene.

By Reference Laboratory Genetics in Spain.

COL4A3
Specificity
100 %
Genes
50 %
Alport Syndrome, Sequencing COL4A3 Gene.

By Reference Laboratory Genetics in Spain.

COL4A3
Specificity
100 %
Genes
50 %
Benign Familial Hematuria , Sequencing COL4A3 Gene.

By Reference Laboratory Genetics in Spain.

COL4A3
Specificity
100 %
Genes
50 %


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