Stargardt Disease 1; Stgd1

Description

Severe early childhood onset retinal dystrophy (SECORD) is an inherited retinal dystrophy characterized by a severe congenital night blindness, progressive retinal dystrophy and nystagmus. Best corrected visual acuity can reach 0.3 in the first decade of life and can pertain well into the second decade of life. Blindness is often complete by the age of 30 years.

Clinical Features

Top most frequent phenotypes and symptoms related to Stargardt Disease 1; Stgd1

  • Pica
  • Milia
  • Tics
  • Blindness
  • Reduced visual acuity
  • Visual loss
  • Photophobia
  • Nyctalopia
  • Retinal degeneration
  • Abnormality of skin pigmentation
And another 19 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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Stargardt Disease 1; Stgd1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMet®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories in United States.

GSN, NEFH, SOD1, TEAD1, PHB, PLA2G2A, AKAP10, PNKD, PAX2, CPOX, ABCB7, TAZ, TIMM8A, GK, PDHA1, HCCS, NYX, FRMD7, OTC, RP2 , (...)

View the complete list with 617 more genes
Specificity
1 %
Genes
86 %
SPATA7 Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories in United States.

SPATA7
Specificity
100 %
Genes
15 %
SPATA7 Sequence Analysis.

By Baylor Miraca Genetics Laboratories in United States.

SPATA7
Specificity
100 %
Genes
15 %
SPATA7 Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

SPATA7
Specificity
100 %
Genes
15 %
SPATA7 Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

SPATA7
Specificity
100 %
Genes
15 %
Leber Congential Amaurosis Panel (MitomeNGS).

By Baylor Miraca Genetics Laboratories in United States.

NMNAT1, LCA5, IQCB1, CABP4, RD3, RDH12, LRAT, CRB1, CRX, GUCY2D, IMPDH1, RPE65, RPGRIP1, TULP1, CEP290, KCNJ13, OTX2, SPATA7, AIPL1
Specificity
22 %
Genes
58 %
Leber Congenital Amaurosis Panel.

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

IFT140, GDF6, CLUAP1, DTHD1, NMNAT1, LCA5, IQCB1, CABP4, RD3, RDH12, LRAT, CRB1, CRX, GUCY2D, IMPDH1, RPE65, RPGRIP1, TULP1, PRPH2, CEP290 , (...)

View the complete list with 4 more genes
Specificity
17 %
Genes
58 %
Retinitis Pigmentosa Panel.

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

ARL2BP, NEK2, SLC7A14, KIZ, PRPF4, WDR19, ZNF408, EMC1, AGBL5, RBP4, ARL3, SPP2, DHX38, IFT140, MVK, OFD1, POMGNT1, ROM1, PRPF3, NR2E3 , (...)

View the complete list with 72 more genes
Specificity
6 %
Genes
72 %
Ciliopathies.

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

EVC2, EVC, ARL13B, GLIS2, IFT80, CPLANE1, CEP41, GATA4, GDF1, IFT43, KIF7, NEK8, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, ZIC3, B9D1 , (...)

View the complete list with 73 more genes
Specificity
5 %
Genes
58 %
SPATA7.

By Institute for Human Genetics University Clinic Freiburg in Germany.

SPATA7
Specificity
100 %
Genes
15 %
Retinitis Pigmentosa/Leber Congenital Amaurosis Panel, Sequencing and Deletion/Duplication, 53 Genes.

By ARUP Laboratories, Molecular Genetics and Genomics in United States.

ROM1, PRPF3, NR2E3, RP9, RP2, PRPF8, PRPF31, CA4, EYS, LCA5, FSCN2, CERKL, TOPORS, SEMA4A, SNRNP200, PRCD, RD3, RDH12, KLHL7, LRAT , (...)

View the complete list with 33 more genes
Specificity
10 %
Genes
72 %
Leber congenital amaurosis 3 (LCA3, sequence analysis of SPATA7 gene).

By CGC Genetics in Portugal.

SPATA7
Specificity
100 %
Genes
15 %
Leber congenital amaurosis (NGS panel for 20 genes).

By CGC Genetics in Portugal.

GDF6, NMNAT1, LCA5, IQCB1, RD3, RDH12, LRAT, CRB1, CRX, GUCY2D, IMPDH1, RPE65, RPGRIP1, TULP1, PRPH2, CEP290, KCNJ13, OTX2, SPATA7, AIPL1
Specificity
20 %
Genes
58 %
Retinitis pigmentosa (NGS panel for 72 genes).

By CGC Genetics in Portugal.

RDH11, TUB, ECM1, KIAA1549, ADGRA3, ARL2BP, NEK2, PRPF4, RBP4, DHX38, GNPTG, NMNAT1, ROM1, RBP3, PRPF3, NR2E3, MAK, RP9, BBS1, CYP4V2 , (...)

View the complete list with 52 more genes
Specificity
6 %
Genes
58 %
Retinitis pigmentosa, AR and X-linked (NGS panel for 53 genes).

By CGC Genetics in Portugal.

RDH11, TUB, KIAA1549, ADGRA3, ARL2BP, NEK2, EMC1, RBP4, DHX38, GNPTG, NMNAT1, RBP3, NR2E3, MAK, BBS1, CYP4V2, RP2, EYS, CERKL, FLVCR1 , (...)

View the complete list with 33 more genes
Specificity
8 %
Genes
58 %
Autosomal Recessive Retinitis Pigmentosa Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

PLA2G5, KIAA1549, ADGRA3, ARL2BP, SLC7A14, EMC1, RBP3, NR2E3, MAK, CLN3, PRPF31, EYS, LCA5, CERKL, FLVCR1, SEMA4A, PRCD, RD3, RDH12, LRAT , (...)

View the complete list with 39 more genes
Specificity
9 %
Genes
72 %
Leber Congenital Amaurosis Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

DTHD1, PDE6H, NMNAT1, CNGA3, LCA5, IQCB1, SNRNP200, CABP4, RD3, RDH12, LRAT, GNAT2, MERTK, CRB1, CRX, GUCY2D, IMPDH1, RPE65, RPGRIP1, TULP1 , (...)

View the complete list with 8 more genes
Specificity
18 %
Genes
72 %
Retinitis Pigmentosa (includes RPGR ORF15) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

PLA2G5, KIAA1549, ADGRA3, ARL2BP, SLC7A14, EMC1, OFD1, ROM1, RBP3, PRPF3, NR2E3, MAK, CLN3, RP2, PRPF8, PRPF31, CA4, PITPNM3, EYS, LCA5 , (...)

View the complete list with 60 more genes
Specificity
7 %
Genes
72 %
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

ACBD5, OR2W3, CFAP57, CEP250, SLC4A7, REEP6, NXNL1, MIR204, IFT81, PRDM13, IFT88, CAPN5, HMX1, ADAMTS18, RDH11, TUB, PCYT1A, RGS9BP, PLA2G5, VCAN , (...)

View the complete list with 285 more genes
Specificity
3 %
Genes
100 %
Focused Inherited Retinal Disorders Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

NMNAT1, NR2E3, RDH5, PRPF8, EYS, LCA5, IQCB1, CABP4, RD3, RDH12, LRAT, PCARE, CNGA1, PDE6A, CRB1, CRX, GUCY2D, IMPDH1, PDE6B, RHO , (...)

View the complete list with 11 more genes
Specificity
13 %
Genes
58 %
Leber congenital amaurosis and related disorders Comprehensive panel.

By Connective Tissue Gene Tests in United States.

IFT140, GDF6, CLUAP1, DTHD1, NMNAT1, ROM1, RDH5, ALMS1, CNGA3, MYO7A, LCA5, IQCB1, SNRNP200, CABP4, RD3, RDH12, LRAT, MERTK, CRB1, CRX , (...)

View the complete list with 12 more genes
Specificity
13 %
Genes
58 %
Leber congenital amaurosis and related disorders Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

IFT140, GDF6, CLUAP1, DTHD1, NMNAT1, ROM1, RDH5, ALMS1, CNGA3, MYO7A, LCA5, IQCB1, SNRNP200, CABP4, RD3, RDH12, LRAT, MERTK, CRB1, CRX , (...)

View the complete list with 12 more genes
Specificity
13 %
Genes
58 %
Leber congenital amaurosis and related disorders NGS panel.

By Connective Tissue Gene Tests in United States.

IFT140, GDF6, CLUAP1, DTHD1, NMNAT1, ROM1, RDH5, ALMS1, CNGA3, MYO7A, LCA5, IQCB1, SNRNP200, CABP4, RD3, RDH12, LRAT, MERTK, CRB1, CRX , (...)

View the complete list with 12 more genes
Specificity
13 %
Genes
58 %
SPATA7-Related Leber Congenital Amaurosis.

By Bioscientia GmbH Center for Human Genetics in Germany.

SPATA7
Specificity
100 %
Genes
15 %
Leber congenital amaurosis type 3.

By Centogene AG - the Rare Disease Company in Germany.

SPATA7
Specificity
100 %
Genes
15 %
Retinitis pigmentosa, juvenile, autosomal recessive.

By Centogene AG - the Rare Disease Company in Germany.

SPATA7
Specificity
100 %
Genes
15 %
Retinitis pigmentosa, autosomal recessive and X-linked Panel.

By CeGaT GmbH in Germany.

RDH11, TUB, KIAA1549, ADGRA3, IFT172, ARL2BP, NEK2, SLC7A14, KIZ, ZNF408, EMC1, RBP4, DHX38, GNPTG, NMNAT1, RBP3, NR2E3, MAK, BBS2, BBS1 , (...)

View the complete list with 42 more genes
Specificity
7 %
Genes
58 %
Leber Congenital Amaurosis Panel.

By CeGaT GmbH in Germany.

NMNAT1, RDH5, LCA5, IQCB1, RD3, RDH12, LRAT, MERTK, CRB1, CRX, GUCY2D, RPE65, RPGRIP1, TULP1, PRPH2, CEP290, KCNJ13, OTX2, SPATA7, AIPL1
Specificity
20 %
Genes
58 %
Leber Congenital Amaurosis.

By Asper Biogene Asper Biogene LLC in Estonia.

GDF6, NMNAT1, LCA5, RD3, RDH12, LRAT, CRB1, CRX, GUCY2D, IMPDH1, RPE65, RPGRIP1, TULP1, CEP290, KCNJ13, SPATA7, AIPL1
Specificity
24 %
Genes
58 %
Eye diseases comprehensive panel.

By Asper Biogene Asper Biogene LLC in Estonia.

ZNF644, YAP1, JAM3, HMX1, ADAMTS18, SMOC1, CRYGS, HSF4, VIM, EPHA2, CRYGB, CRYGC, CRYBB2, MIP, CRYBA1, BFSP2, CHMP4B, CRYGD, RGS9BP, PLA2G5 , (...)

View the complete list with 255 more genes
Specificity
3 %
Genes
100 %
Retinal Dystrophy Panel.

By Molecular Vision Laboratory in United States.

CKAP4, DGKQ, RHEX, ACBD5, OR2W3, CEP250, SLC4A7, MIR204, IFT81, HMX1, ADAMTS18, RDH11, TUB, RGS9BP, PLA2G5, VCAN, PEX11B, KIAA1549, ADGRA3, TRNT1 , (...)

View the complete list with 267 more genes
Specificity
3 %
Genes
100 %
Leber congenital amaurosis panel.

By Molecular Vision Laboratory in United States.

IFT140, GDF6, DTHD1, NMNAT1, LCA5, IQCB1, CABP4, RD3, RDH12, LRAT, CRB1, CRX, GUCY2D, IMPDH1, RPE65, RPGRIP1, TULP1, PRPH2, CEP290, KCNJ13 , (...)

View the complete list with 3 more genes
Specificity
18 %
Genes
58 %
MVL Vision Panel.

By Molecular Vision Laboratory in United States.

CKAP4, DGKQ, RHEX, OR2W3, CEP250, SLC4A7, MIR204, IFT81, HMX1, RDH11, TUB, RGS9BP, PLA2G5, VCAN, PEX11B, KIAA1549, ADGRA3, TRNT1, ITM2B, RTN4IP1 , (...)

View the complete list with 248 more genes
Specificity
3 %
Genes
86 %
Invitae Leber Congenital Amaurosis Panel.

By Invitae in United States.

GDF6, NMNAT1, LCA5, IQCB1, RD3, RDH12, LRAT, CRB1, CRX, GUCY2D, RPE65, RPGRIP1, TULP1, PRPH2, CEP290, KCNJ13, OTX2, SPATA7, AIPL1
Specificity
22 %
Genes
58 %
RETINITIS PIGMENTOSA A.R..

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

GNPTG, RBP3, NR2E3, MAK, BBS1, RP2, EYS, CERKL, FLVCR1, PRCD, RDH12, LRAT, PCARE, IMPG2, PDE6G, NRL, CNGA1, FAM161A, CNGB1, RGR , (...)

View the complete list with 21 more genes
Specificity
10 %
Genes
58 %
Leber Congenital Amaurosis.

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

NMNAT1, LCA5, IQCB1, RD3, RDH12, LRAT, CRB1, CRX, GUCY2D, IMPDH1, RPE65, RPGRIP1, TULP1, CEP290, KCNJ13, SPATA7, AIPL1
Specificity
24 %
Genes
58 %
RETINITIS PIGMENTOSA.

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

GNPTG, ROM1, RBP3, PRPF3, NR2E3, MAK, RP9, BBS1, RP2, PRPF8, PRPF31, CA4, EYS, FSCN2, CERKL, FLVCR1, TOPORS, SEMA4A, SNRNP200, PRCD , (...)

View the complete list with 37 more genes
Specificity
8 %
Genes
58 %
Eye Disorders: Comprehensive Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

SMOC1, RGS9BP, PLA2G5, VCAN, FRAS1, FREM2, GRIP1, ZNF423, TCTN3, B3GLCT, BMP4, VSX2, FREM1, VAX1, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1 , (...)

View the complete list with 190 more genes
Specificity
4 %
Genes
100 %
Leber Congenital Amaurosis: Sequencing and Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

LCA5, IQCB1, CABP4, RD3, RDH12, LRAT, CRB1, CRX, GUCY2D, IMPDH1, RPE65, RPGRIP1, TULP1, CEP290, KCNJ13, OTX2, SPATA7, AIPL1
Specificity
23 %
Genes
58 %
Retinitis Pigmentosa: Sequencing and Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

RBP4, OFD1, ROM1, RBP3, PRPF3, NR2E3, MAK, RP9, CLN3, BBS1, RP2, PRPF8, PRPF31, CA4, EYS, C1QTNF5, FSCN2, CERKL, FLVCR1, TOPORS , (...)

View the complete list with 44 more genes
Specificity
7 %
Genes
58 %
Ciliopathies: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

HYLS1, NEK1, DYNC2H1, ZNF423, CEP164, B9D2, ACVR2B, CRELD1, LEFTY2, EVC2, EVC, ARL13B, GLIS2, IFT80, CPLANE1, CEP41, GDF1, IFT43, KIF7, NEK8 , (...)

View the complete list with 92 more genes
Specificity
4 %
Genes
58 %
Retina/Photoreceptor Dystrophy: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

C8orf37-AS1, RGS9BP, PLA2G5, VCAN, CDH15, RBP4, GPR179, LRIT3, CNNM4, PDE6H, RAX2, UNC119, COL11A2, COL11A1, COL9A2, COL9A1, OFD1, ROM1, RBP3, PRPF3 , (...)

View the complete list with 100 more genes
Specificity
5 %
Genes
86 %
Ciliopathies: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

HYLS1, NEK1, DYNC2H1, B9D2, EVC2, EVC, ARL13B, GLIS2, IFT80, IFT43, KIF7, NEK8, RPGRIP1L, TCTN1, TCTN2, TTC21B, ZIC3, B9D1, SDCCAG8, WDPCP , (...)

View the complete list with 76 more genes
Specificity
5 %
Genes
58 %
Eye Disorders: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

SMOC1, RGS9BP, PLA2G5, VCAN, FRAS1, FREM2, GRIP1, ZNF423, TCTN3, B3GLCT, BMP4, VSX2, FREM1, VAX1, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1 , (...)

View the complete list with 187 more genes
Specificity
4 %
Genes
100 %
Ciliopathies NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

HYLS1, NEK1, DYNC2H1, B9D2, EVC2, EVC, ARL13B, GLIS2, IFT80, IFT43, KIF7, NEK8, RPGRIP1L, TCTN1, TCTN2, TTC21B, ZIC3, B9D1, SDCCAG8, WDPCP , (...)

View the complete list with 75 more genes
Specificity
5 %
Genes
58 %
Eye Disorders NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

RGS9BP, VCAN, VSX2, RPGRIP1L, RBP4, HMCN1, CDH3, CNNM4, RAX2, UNC119, COL11A1, COL9A1, TREX1, AHI1, TTPA, PEX1, PEX7, PEX2, MTTP, ROM1 , (...)

View the complete list with 118 more genes
Specificity
5 %
Genes
86 %
Retinitis Pigmentosa NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

RPGRIP1L, GNPTG, PEX26, PEX1, PEX7, PEX2, ROM1, RBP3, PRPF3, NR2E3, MAK, RP9, BBS2, BBS1, BBS4, BBS10, BBS9, BBS12, BBS5, BBS7 , (...)

View the complete list with 68 more genes
Specificity
5 %
Genes
58 %
SPATA7.

By Fulgent Genetics Fulgent Genetics in United States.

SPATA7
Specificity
100 %
Genes
15 %
Retinal Dystrophy Panel.

By Blueprint Genetics in Finland.

ARMC9, REEP6, IFT81, PRDM13, CAPN5, HMX1, ADAMTS18, RDH11, TUB, PCYT1A, RGS9BP, PLA2G5, ATOH7, VCAN, PEX11B, CEP78, SAMD11, ARHGEF18, CWC27, RTN4IP1 , (...)

View the complete list with 240 more genes
Specificity
3 %
Genes
100 %
Leber Congenital Amaurosis Panel.

By Blueprint Genetics in Finland.

CWC27, DTHD1, NMNAT1, RDH5, ALMS1, BBS4, CNGA3, MYO7A, LCA5, IQCB1, CABP4, RD3, RDH12, LRAT, MERTK, CRB1, CRX, GUCY2D, IMPDH1, RPE65 , (...)

View the complete list with 6 more genes
Specificity
16 %
Genes
58 %
Retinitis Pigmentosa Panel.

By Blueprint Genetics in Finland.

REEP6, TUB, PLA2G5, SAMD11, ARHGEF18, CWC27, ADIPOR1, ARL2BP, NEK2, SLC7A14, KIZ, PRPF4, WDR19, ZNF408, AGBL5, RBP4, SPP2, DHX38, CTNNA1, IFT140 , (...)

View the complete list with 90 more genes
Specificity
5 %
Genes
72 %
LEBER CONGENITAL AMAUROSIS.

By Laboratorio de Genetica Clinica SL in Spain.

LCA5, RD3, RDH12, LRAT, CRB1, CRX, GUCY2D, IMPDH1, RPE65, RPGRIP1, TULP1, CEP290, KCNJ13, SPATA7, AIPL1
Specificity
27 %
Genes
58 %
Autosomal Recessive and Sporadic Retinitis Pigmentosa, Panel Massive Sequencing (NGS) 41 Genes.

By Reference Laboratory Genetics in Spain.

GNPTG, RBP3, NR2E3, MAK, BBS1, RP2, EYS, CERKL, FLVCR1, PRCD, RDH12, LRAT, PCARE, IMPG2, PDE6G, NRL, CNGA1, FAM161A, CNGB1, RGR , (...)

View the complete list with 21 more genes
Specificity
10 %
Genes
58 %
Leber Congenital Amaurosis , Panel Massive Sequencong (NGS) 17 Genes.

By Reference Laboratory Genetics in Spain.

NMNAT1, LCA5, IQCB1, RD3, RDH12, LRAT, CRB1, CRX, GUCY2D, IMPDH1, RPE65, RPGRIP1, TULP1, CEP290, KCNJ13, SPATA7, AIPL1
Specificity
24 %
Genes
58 %
Retinitis Pigmentosa (Complet Panel) , Panel Massive Sequencing (NGS) 57 Genes.

By Reference Laboratory Genetics in Spain.

GNPTG, ROM1, RBP3, PRPF3, NR2E3, MAK, RP9, BBS1, RP2, PRPF8, PRPF31, CA4, EYS, FSCN2, CERKL, FLVCR1, TOPORS, SEMA4A, SNRNP200, PRCD , (...)

View the complete list with 37 more genes
Specificity
8 %
Genes
58 %
Nonsyndromic Autosomal Recessive retinitis pigmentosa: gene sequencing panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

KIAA1549, ADGRA3, TRNT1, IFT172, ARL2BP, NEK2, SLC7A14, KIZ, ZNF408, EMC1, AGBL5, DHX38, IFT140, MVK, POMGNT1, RBP3, NR2E3, MAK, BBS2, BBS1 , (...)

View the complete list with 35 more genes
Specificity
8 %
Genes
58 %
RPE65 Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

RPE65
Specificity
100 %
Genes
15 %
RPE65 Sequence Analysis.

By Baylor Miraca Genetics Laboratories in United States.

RPE65
Specificity
100 %
Genes
15 %
RPE65 Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories in United States.

RPE65
Specificity
100 %
Genes
15 %
RPE65 Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

RPE65
Specificity
100 %
Genes
15 %
Leber congenital amaurosis 2; RPE65.

By Medical Genetics Laboratory, Kennedy Center Juliane Marie Center, Rigshospitalet in Denmark.

RPE65
Specificity
100 %
Genes
15 %
RPE65.

By Institute for Human Genetics University Clinic Freiburg in Germany.

RPE65
Specificity
100 %
Genes
15 %
RPE65 Gene Sequencing.

By GeneDx in United States.

RPE65
Specificity
100 %
Genes
15 %
RPE65 mutation analysis.

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam in Netherlands.

RPE65
Specificity
100 %
Genes
15 %
RPE65. Complete sequencing.

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

RPE65
Specificity
100 %
Genes
15 %
RPE65. Complete sequencing.

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

RPE65
Specificity
100 %
Genes
15 %
Leber congenital amaurosis (sequence analysis of RPE65 gene).

By CGC Genetics in Portugal.

RPE65
Specificity
100 %
Genes
15 %
Retinitis pigmentosa, AD and X-linked (NGS panel for 27 genes).

By CGC Genetics in Portugal.

PRPF4, ROM1, PRPF3, NR2E3, RP9, RP2, PRPF8, PRPF31, CA4, FSCN2, TOPORS, SEMA4A, SNRNP200, RDH12, KLHL7, NRL, RGR, GUCA1B, PRPF6, CRX , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
15 %
Leber congenital amaurosis (deletion/duplication analysis on AIPL1, CRB1, CRX, LCA5 and RPE65 genes).

By CGC Genetics in Portugal.

LCA5, CRB1, CRX, RPE65, AIPL1
Specificity
40 %
Genes
29 %
Leber congenital amaurosis (deletion/duplication analysis on AIPL1, CRB1, CRX, LCA5 and RPE65 genes).

By CGC Genetics in Portugal.

LCA5, CRB1, CRX, RPE65, AIPL1
Specificity
40 %
Genes
29 %
Autosomal Dominant Retinitis Pigmentosa Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

EMC1, ROM1, PRPF3, NR2E3, PRPF8, PRPF31, CA4, PITPNM3, EYS, LCA5, C1QTNF5, FSCN2, TOPORS, SEMA4A, SNRNP200, KLHL7, NRL, GUCA1B, PRPF6, CRB1 , (...)

View the complete list with 9 more genes
Specificity
7 %
Genes
29 %
Congenital Stationary Night Blindness Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

GPR179, LRIT3, RDH5, GRM6, NYX, CABP4, GNAT1, CACNA2D4, TRPM1, SLC24A1, PDE6B, RHO, RPE65, SAG, CACNA1F, CHM
Specificity
7 %
Genes
15 %
RPE65-Associated Disorders via RPE65 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

RPE65
Specificity
100 %
Genes
15 %
RPE65-Related Retinitis Pigmentosa.

By Bioscientia GmbH Center for Human Genetics in Germany.

RPE65
Specificity
100 %
Genes
15 %
RPE65-Related Leber Congenital Amaurosis.

By Bioscientia GmbH Center for Human Genetics in Germany.

RPE65
Specificity
100 %
Genes
15 %
Retinitis pigmentosa type 20, autosomal recessive.

By Centogene AG - the Rare Disease Company in Germany.

RPE65
Specificity
100 %
Genes
15 %
Retinitis pigmentosa, autosomal dominant and X-linked Panel.

By CeGaT GmbH in Germany.

PRPF4, ARL3, SPP2, ROM1, PRPF3, NR2E3, RP9, HK1, RP2, PRPF8, PRPF31, CA4, FSCN2, TOPORS, SEMA4A, SNRNP200, RDH12, KLHL7, NRL, RGR , (...)

View the complete list with 10 more genes
Specificity
4 %
Genes
15 %
Single gene testing RPE65.

By CeGaT GmbH in Germany.

RPE65
Specificity
100 %
Genes
15 %
Autosomal Recessive Retinitis Pigmentosa.

By Asper Biogene Asper Biogene LLC in Estonia.

ROM1, RBP3, PRPF3, NR2E3, MAK, RP9, CNGA3, RP2, PRPF8, PRPF31, CA4, EYS, FSCN2, CERKL, TOPORS, SEMA4A, PRCD, RDH12, LRAT, GRK1 , (...)

View the complete list with 36 more genes
Specificity
8 %
Genes
58 %
Autosomal Dominant Retinitis Pigmentosa.

By Asper Biogene Asper Biogene LLC in Estonia.

ROM1, PRPF3, NR2E3, RP9, PRPF8, PRPF31, CA4, FSCN2, TOPORS, SEMA4A, SNRNP200, RDH12, KLHL7, NRL, RGR, GUCA1B, PRPF6, CRX, IMPDH1, RHO , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
15 %
RPE65, sequencing.

By Molecular Diagnostics Laboratory Seoul National University Hospital in South Korea.

RPE65
Specificity
100 %
Genes
15 %
Retinitis pigmentosa.

By VECMD VECMD in Mexico.

BBIP1, PRPF8, PRPF31, CA4, CRB1, IMPDH1, RPE65, TULP1
Specificity
13 %
Genes
15 %
qCarrier Plus.

By Quantitative Genomic Medicine Laboratories, SL in Spain.

MPP3, FTCD, ADK, CTH, HAL, HGD, WNT10A, SLC6A19, TPO, SLC5A5, DUOX2, DUOXA2, PAX8, HJV, HOGA1, TFR2, COL7A1, SLC39A4, ARL13B, FANCA , (...)

View the complete list with 280 more genes
Specificity
2 %
Genes
58 %
Leber congenital amaurosis 2: RPE65 gene sequence analysis.

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

RPE65
Specificity
100 %
Genes
15 %
Retinitis pigmentosa: RPE65 gene sequence analysis.

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

RPE65
Specificity
100 %
Genes
15 %
RETINITIS PIGMENTOSA A.D.

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

ROM1, PRPF3, NR2E3, RP9, RP2, PRPF8, PRPF31, CA4, FSCN2, TOPORS, SEMA4A, SNRNP200, RDH12, KLHL7, NRL, RGR, GUCA1B, PRPF6, CRX, IMPDH1 , (...)

View the complete list with 7 more genes
Specificity
8 %
Genes
29 %
RPE65.

By Fulgent Genetics Fulgent Genetics in United States.

RPE65
Specificity
100 %
Genes
15 %
Congenital Stationary Night Blindness Panel.

By Blueprint Genetics in Finland.

GPR179, LRIT3, RDH5, CYP4V2, GRM6, NYX, CABP4, GNAT1, CACNA2D4, TRPM1, GRK1, PDE6B, RHO, RLBP1, RPE65, SAG, CACNA1F
Specificity
6 %
Genes
15 %
Retinitis pigmentosa autosomal recessive.

By Bioarray in Spain.

RPE65
Specificity
100 %
Genes
15 %
Leber congenital amaurosis type 2.

By Bioarray in Spain.

RPE65
Specificity
100 %
Genes
15 %
CarrierMap.

By Recombine in United States.

VPS53, SLC26A3, BCHE, HGD, GDF5, XPC, SLC7A9, LIFR, XPA, WRN, SEPSECS, MED17, ASNS, AMHR2, AMH, CYP19A1, HJV, HOGA1, TFR2, TTC37 , (...)

View the complete list with 281 more genes
Specificity
2 %
Genes
58 %
RETINITIS PIGMENTOSA (AUTOSOMAL RECESSIVE).

By Laboratorio de Genetica Clinica SL in Spain.

EYS, CERKL, PDE6A, CRB1, PDE6B, RPE65, SAG, USH2A, ABCA4
Specificity
23 %
Genes
29 %
Leber Congenital Amaurosis Type 2, Sequencing RPE65 Gene.

By Reference Laboratory Genetics in Spain.

RPE65
Specificity
100 %
Genes
15 %
Retinitis Pigmentosa, Sequencing RPE65 Gene.

By Reference Laboratory Genetics in Spain.

RPE65
Specificity
100 %
Genes
15 %
Autosomal Dominant Retinitis Pigmentosa, Panel Massive Sequencing (NGS) 27 Genes.

By Reference Laboratory Genetics in Spain.

ROM1, PRPF3, NR2E3, RP9, RP2, PRPF8, PRPF31, CA4, FSCN2, TOPORS, SEMA4A, SNRNP200, RDH12, KLHL7, NRL, RGR, GUCA1B, PRPF6, CRX, IMPDH1 , (...)

View the complete list with 7 more genes
Specificity
8 %
Genes
29 %
Nonsyndromic Autosomal Dominant Retinitis Pigmentosa: gene sequencing panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

ARL3, SPP2, ROM1, PRPF3, NR2E3, RP9, HK1, PRPF8, PRPF31, CA4, FSCN2, TOPORS, SEMA4A, SNRNP200, RDH12, KLHL7, NRL, GUCA1B, PRPF6, CRX , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
15 %
LCA5 Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

LCA5
Specificity
100 %
Genes
15 %
LCA5 Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

LCA5
Specificity
100 %
Genes
15 %
LCA5 Sequence Analysis.

By Baylor Miraca Genetics Laboratories in United States.

LCA5
Specificity
100 %
Genes
15 %
LCA5 Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories in United States.

LCA5
Specificity
100 %
Genes
15 %
LCA5.

By Institute for Human Genetics University Clinic Freiburg in Germany.

LCA5
Specificity
100 %
Genes
15 %
Leber congenital amaurosis 5 (LCA5, sequence analysis of LCA5 gene).

By CGC Genetics in Portugal.

LCA5
Specificity
100 %
Genes
15 %
LCA5-Related Leber Congenital Amaurosis.

By Bioscientia GmbH Center for Human Genetics in Germany.

LCA5
Specificity
100 %
Genes
15 %
Leber congenital amaurosis type 5.

By Centogene AG - the Rare Disease Company in Germany.

LCA5
Specificity
100 %
Genes
15 %
Ashkenazi Jewish diseases.

By Asper Biogene Asper Biogene LLC in Estonia.

F11, MEFV, CYP21A2, LRRK2, TOR1A, TMEM216, ABCC8, MCOLN1, SERPINA1, NEB, FKTN, SMN1, LDLR, GJB2, BLM, GBA, FANCC, CFTR, ELP1, ASPA , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
15 %
Ashkenazi Jewish Panel.

By Molecular Vision Laboratory in United States.

MAK, LCA5, CACNA2D4, TRPM1, FAM161A, DHDDS, PCDH15, CLRN1
Specificity
13 %
Genes
15 %
LCA5.

By Fulgent Genetics Fulgent Genetics in United States.

LCA5
Specificity
100 %
Genes
15 %
LRAT Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

LRAT
Specificity
100 %
Genes
15 %
LRAT Sequence Analysis.

By Baylor Miraca Genetics Laboratories in United States.

LRAT
Specificity
100 %
Genes
15 %
LRAT Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

LRAT
Specificity
100 %
Genes
15 %
LRAT Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories in United States.

LRAT
Specificity
100 %
Genes
15 %
LRAT.

By Institute for Human Genetics University Clinic Freiburg in Germany.

LRAT
Specificity
100 %
Genes
15 %
LRAT. Complete sequencing.

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

LRAT
Specificity
100 %
Genes
15 %
Leber congenital amaurosis (sequence analysis of LRAT gene).

By CGC Genetics in Portugal.

LRAT
Specificity
100 %
Genes
15 %
Flecked Retina Disorder Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

PLA2G5, VPS13B, EFEMP1, RDH5, LRAT, RS1, PROM1, RHO, RLBP1, PRPH2, ABCA4, ELOVL4, CHM
Specificity
16 %
Genes
29 %
Leber congenital amaurosis 14 (LCA14) or Early Onset Retinal Dystrophy (EORD) and Juvenile Retinitis pigmentosa via the LRAT Gene.

By PreventionGenetics PreventionGenetics in United States.

LRAT
Specificity
100 %
Genes
15 %
LRAT-Related Leber Congenital Amaurosis.

By Bioscientia GmbH Center for Human Genetics in Germany.

LRAT
Specificity
100 %
Genes
15 %
Retinitis pigmentosa juvenile.

By Centogene AG - the Rare Disease Company in Germany.

LRAT
Specificity
100 %
Genes
15 %
Single gene testing LRAT.

By CeGaT GmbH in Germany.

LRAT
Specificity
100 %
Genes
15 %
LRAT.

By Fulgent Genetics Fulgent Genetics in United States.

LRAT
Specificity
100 %
Genes
15 %
Leber congenital amaurosis type 14.

By Bioarray in Spain.

LRAT
Specificity
100 %
Genes
15 %
ABCA4 Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

ABCA4
Specificity
100 %
Genes
15 %
ABCA4 Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

ABCA4
Specificity
100 %
Genes
15 %
ABCA4 Deletion/Duplication Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories in United States.

ABCA4
Specificity
100 %
Genes
15 %
ABCA4 Sequence Analysis.

By Baylor Miraca Genetics Laboratories in United States.

ABCA4
Specificity
100 %
Genes
15 %
ABCA4 Sequence Analysis (Familial Mutation/Variant Analysis).

By Baylor Miraca Genetics Laboratories in United States.

ABCA4
Specificity
100 %
Genes
15 %
ABCA4 Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories in United States.

ABCA4
Specificity
100 %
Genes
15 %
Cone-Rod Dystrophy Panel.

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

CNNM4, PDE6H, RAX2, RAB28, TTLL5, POC1B, ATF6, CFAP410, UNC119, RDH5, CNGA3, PITPNM3, GUCA1A, EYS, RIMS1, CERKL, SEMA4A, KCNV2, CACNA2D4, ADAM9 , (...)

View the complete list with 17 more genes
Specificity
6 %
Genes
29 %
Macular Degeneration Panel.

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

CHST6, HMCN1, CDH3, IMPG1, DRAM2, CTNNA1, RAX2, MFSD8, EFEMP1, TIMP3, C1QTNF5, FSCN2, IMPG2, RP1L1, GUCA1B, PROM1, RPGR, PRPH2, CNGB3, OTX2 , (...)

View the complete list with 4 more genes
Specificity
13 %
Genes
43 %
Stargardt, arRP, Age-Related Macular Degeneration, CORD3 - ABCA4 Sequencing.

By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado in United States.

ABCA4
Specificity
100 %
Genes
15 %
ABCA4 Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

ABCA4
Specificity
100 %
Genes
15 %
ABCA4 Deletion/duplication analysis.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

ABCA4
Specificity
100 %
Genes
15 %
ABCA4.

By Institute for Human Genetics University Clinic Freiburg in Germany.

ABCA4
Specificity
100 %
Genes
15 %
ABCA4 mutation analysis.

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam in Netherlands.

ABCA4
Specificity
100 %
Genes
15 %
ABCA4, CRX, GUCY2D. NextGeneDx.Complete sequencing by NGS.

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

CRX, GUCY2D, ABCA4
Specificity
34 %
Genes
15 %
ABCA4. MLPA testing.

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

ABCA4
Specificity
100 %
Genes
15 %
ABCA4. NextGeneDx.Complete sequencing by NGS.

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

ABCA4
Specificity
100 %
Genes
15 %
ABCA4. Genotyping array (558 mutations).

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

ABCA4
Specificity
100 %
Genes
15 %
ABCA4. Complete sequencing.

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

ABCA4
Specificity
100 %
Genes
15 %
ABCA4. MLPA testing (Salsa P152).

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

ABCA4
Specificity
100 %
Genes
15 %
ABCA4. MLPA testing (Salsa P151).

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

ABCA4
Specificity
100 %
Genes
15 %
Cone-rod dystrophy (NGS panel of 36 genes).

By CGC Genetics in Portugal.

PCYT1A, RGS9BP, CNNM4, PDE6H, RAX2, RAB28, TTLL5, POC1B, UNC119, RDH5, CNGA3, PITPNM3, GUCA1A, RIMS1, CERKL, RGS9, SEMA4A, KCNV2, CABP4, CACNA2D4 , (...)

View the complete list with 16 more genes
Specificity
6 %
Genes
29 %
Stargardt disease and macular distrophy (NGS panel for 14 genes).

By CGC Genetics in Portugal.

CDH3, IMPG1, TIMP3, C1QTNF5, FSCN2, RDH12, RP1L1, PROM1, RPGR, PRPH2, CNGB3, ABCA4, ELOVL4, BEST1
Specificity
15 %
Genes
29 %
Stargardt disease type 1 (deletion/duplication analysis of ABCA4 gene).

By CGC Genetics in Portugal.

ABCA4
Specificity
100 %
Genes
15 %
Stargardt disease type 1 (sequence analysis of ABCA4 gene).

By CGC Genetics in Portugal.

ABCA4
Specificity
100 %
Genes
15 %
Retinitis pigmentosa 19 (sequence analysis of ABCA4 gene).

By CGC Genetics in Portugal.

ABCA4
Specificity
100 %
Genes
15 %
Retinitis pigmentosa 19 (deletion/duplication analysis on ABCA4 gene).

By CGC Genetics in Portugal.

ABCA4
Specificity
100 %
Genes
15 %
Retinitis pigmentosa 19 (deletion/duplication analysis on ABCA4 gene).

By CGC Genetics in Portugal.

ABCA4
Specificity
100 %
Genes
15 %
Retinitis pigmentosa 19 (sequence analysis of ABCA4 gene).

By CGC Genetics in Portugal.

ABCA4
Specificity
100 %
Genes
15 %
Stargardt Disease (STGD) and Macular Dystrophies Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

CDH3, RBP3, EFEMP1, TIMP3, C1QTNF5, FSCN2, CERKL, RDH12, IMPG2, RP1L1, RS1, GUCA1B, CRB1, PROM1, RLBP1, RPGR, RPGRIP1, PRPH2, CNGB3, ABCA4 , (...)

View the complete list with 2 more genes
Specificity
10 %
Genes
29 %
Cone-Rod Dystrophy Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

RGS9BP, DRAM2, CNNM4, PDE6H, RAX2, RAB28, TTLL5, POC1B, CFAP410, UNC119, RDH5, PITPNM3, GUCA1A, RIMS1, CERKL, RGS9, SEMA4A, KCNV2, CABP4, CACNA2D4 , (...)

View the complete list with 15 more genes
Specificity
6 %
Genes
29 %
Stargardt disease (STGD), Fundus flavimaculatus (FFM) or Retinal dystrophy, early-onset severe via the ABCA4 gene.

By PreventionGenetics PreventionGenetics in United States.

ABCA4
Specificity
100 %
Genes
15 %
ABCA4-Related Retinitis Pigmentosa.

By Bioscientia GmbH Center for Human Genetics in Germany.

ABCA4
Specificity
100 %
Genes
15 %
Retinitis pigmentosa type 19, autosomal dominant.

By Centogene AG - the Rare Disease Company in Germany.

ABCA4
Specificity
100 %
Genes
15 %
Retinal dystrophy, early-onset severe.

By Centogene AG - the Rare Disease Company in Germany.

ABCA4
Specificity
100 %
Genes
15 %
Retinitis pigmentosa type 19, autosomal recessive.

By Centogene AG - the Rare Disease Company in Germany.

ABCA4
Specificity
100 %
Genes
15 %
Cone-rod dystrophy type 3.

By Centogene AG - the Rare Disease Company in Germany.

ABCA4
Specificity
100 %
Genes
15 %
Stargardt Disease type 1.

By Centogene AG - the Rare Disease Company in Germany.

ABCA4
Specificity
100 %
Genes
15 %
Cone Rod Dystrophies Panel.

By CeGaT GmbH in Germany.

ACBD5, PCYT1A, RGS9BP, CNNM4, PDE6H, RAX2, RAB28, TTLL5, POC1B, CFAP410, RDH5, CYP4V2, CNGA3, PITPNM3, GUCA1A, RIMS1, CERKL, RGS9, SEMA4A, KCNV2 , (...)

View the complete list with 20 more genes
Specificity
5 %
Genes
29 %
Stargardt Disease and Macular Dystrophies Panel.

By CeGaT GmbH in Germany.

CDH3, IMPG1, DRAM2, CTNNA1, TTLL5, MFSD8, TIMP3, CLN3, C1QTNF5, FSCN2, RDH12, IMPG2, RP1L1, CRB1, CRX, PROM1, RPGR, PRPH2, CNGB3, ABCA4 , (...)

View the complete list with 2 more genes
Specificity
14 %
Genes
43 %
Single gene testing ABCA4.

By CeGaT GmbH in Germany.

ABCA4
Specificity
100 %
Genes
15 %
Stargardt Disease, Cone-Rod Dystrophy.

By Asper Biogene Asper Biogene LLC in Estonia.

PROM1, CNGB3, ABCA4, ELOVL4
Specificity
50 %
Genes
29 %
Cone-Rod Dystrophy.

By Asper Biogene Asper Biogene LLC in Estonia.

CNNM4, PDE6H, RAX2, RAB28, UNC119, RDH5, PITPNM3, GUCA1A, RIMS1, CERKL, SEMA4A, KCNV2, CABP4, CACNA2D4, ADAM9, PDE6C, CDHR1, GNAT2, C8orf37, CRX , (...)

View the complete list with 10 more genes
Specificity
7 %
Genes
29 %
ABCA4-Related Retinitis Pigmentosa.

By Labor-MVZ Westmecklenburg Laboratory for Molecular Diagnostics in Germany.

ABCA4
Specificity
100 %
Genes
15 %
ABCA4-Related Stargardt Disease 1.

By Labor-MVZ Westmecklenburg Laboratory for Molecular Diagnostics in Germany.

ABCA4
Specificity
100 %
Genes
15 %
Stargardt Panel.

By Molecular Vision Laboratory in United States.

CDH3, IMPG1, DRAM2, TTLL5, EFEMP1, TIMP3, IMPG2, RP1L1, PROM1, PRPH2, ABCA4, ELOVL4, BEST1
Specificity
8 %
Genes
15 %
Cone Rod Dystrophy panel.

By Molecular Vision Laboratory in United States.

CNNM4, PDE6H, RAX2, RAB28, TTLL5, POC1B, ATF6, CFAP410, UNC119, RDH5, CNGA3, PITPNM3, GUCA1A, RIMS1, CERKL, SEMA4A, KCNV2, CACNA2D4, ADAM9, PDE6C , (...)

View the complete list with 13 more genes
Specificity
7 %
Genes
29 %
ABCA4 single-gene sequencing.

By Molecular Vision Laboratory in United States.

ABCA4
Specificity
100 %
Genes
15 %
Cone-Rod dystrophy type 3 (Stargardt disease): ABCA4 gene sequence analysis.

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

ABCA4
Specificity
100 %
Genes
15 %
STARGARDT SYNDROME.

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

CDH3, TIMP3, C1QTNF5, FSCN2, RDH12, RP1L1, PROM1, RPGR, PRPH2, CNGB3, ABCA4, ELOVL4, BEST1
Specificity
16 %
Genes
29 %
Cone rod dystrophy.

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

RGS9BP, CNNM4, PDE6H, RAX2, UNC119, RDH5, PITPNM3, GUCA1A, RIMS1, CERKL, RGS9, SEMA4A, KCNV2, CABP4, CACNA2D4, ADAM9, PDE6C, CDHR1, C8orf37, CRX , (...)

View the complete list with 10 more genes
Specificity
7 %
Genes
29 %
Achromatopsia, Cone, and Cone-rod Dystrophy: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

RGS9BP, RBP4, CNNM4, PDE6H, RAX2, UNC119, RDH5, CNGA3, PITPNM3, GUCA1A, RIMS1, CERKL, RGS9, SEMA4A, KCNV2, CABP4, CACNA2D4, ADAM9, PDE6C, CDHR1 , (...)

View the complete list with 16 more genes
Specificity
6 %
Genes
29 %
Flecked-retina Disorders: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

PLA2G5, RDH5, RHO, RLBP1, PRPH2, ABCA4
Specificity
17 %
Genes
15 %
Macular Dystrophy / Degeneration / Stargardt Disease: Sequencing and Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

RBP4, CDH3, EFEMP1, TIMP3, FSCN2, RDH12, GUCA1B, PROM1, RPGR, RPGRIP1, PRPH2, CNGB3, ABCA4, ELOVL4, BEST1
Specificity
14 %
Genes
29 %
Achromatopsia, Cone, and Cone-rod Dystrophy: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

RGS9BP, RBP4, CNNM4, PDE6H, RAX2, UNC119, RDH5, CNGA3, PITPNM3, GUCA1A, RIMS1, CERKL, RGS9, SEMA4A, KCNV2, CABP4, CACNA2D4, ADAM9, PDE6C, CDHR1 , (...)

View the complete list with 16 more genes
Specificity
6 %
Genes
29 %
Flecked-retina Disorders: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

PLA2G5, RDH5, RHO, RLBP1, PRPH2, ABCA4
Specificity
17 %
Genes
15 %
Cone-Rod Dystrophy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

CNNM4, RAX2, UNC119, RDH5, PITPNM3, GUCA1A, RIMS1, CERKL, SEMA4A, KCNV2, CACNA2D4, ADAM9, PDE6C, CDHR1, C8orf37, CRX, GUCY2D, PROM1, RPGRIP1, CNGB3 , (...)

View the complete list with 4 more genes
Specificity
9 %
Genes
29 %
Macular Degeneration NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

CX3CR1, CST3, C2, C3, CFH, CFI, CFB, ERCC6, HMCN1, RAX2, HTRA1, EFEMP1, RLBP1, RPGR, PRPH2, CNGB3, ABCA4, ELOVL4, TLR4, FBLN5
Specificity
10 %
Genes
29 %
ABCA4.

By Fulgent Genetics Fulgent Genetics in United States.

ABCA4
Specificity
100 %
Genes
15 %
Flecked Retina Disorders Panel.

By Blueprint Genetics in Finland.

PLA2G5, VPS13B, RDH5, CYP4V2, RS1, PROM1, RHO, RLBP1, PRPH2, ABCA4, ELOVL4, CHM
Specificity
9 %
Genes
15 %
Macular Dystrophy Panel.

By Blueprint Genetics in Finland.

PRDM13, CDH3, IMPG1, DRAM2, CTNNA1, RAX2, MFSD8, EFEMP1, RDH5, TIMP3, C1QTNF5, CERKL, RDH12, IMPG2, RP1L1, RS1, CRB1, CRX, PROM1, RLBP1 , (...)

View the complete list with 6 more genes
Specificity
12 %
Genes
43 %
Cone Rod Dystrophy Panel.

By Blueprint Genetics in Finland.

ADAMTS18, RGS9BP, CEP78, ARHGEF18, CNNM4, PDE6H, RAX2, RAB28, TTLL5, POC1B, CFAP410, RDH5, CLN3, CYP4V2, CNGA3, PITPNM3, GUCA1A, RIMS1, CERKL, RGS9 , (...)

View the complete list with 22 more genes
Specificity
5 %
Genes
29 %
Stargardt disease.

By Bioarray in Spain.

ABCA4
Specificity
100 %
Genes
15 %
CONE-ROD DYSTROPHY (AUTOSOMAL RECESSIVE).

By Laboratorio de Genetica Clinica SL in Spain.

ABCA4
Specificity
100 %
Genes
15 %
STARGARDT DISEASE TYPE 1 (FUNDUS FLAVIMACULATUS).

By Laboratorio de Genetica Clinica SL in Spain.

CNGB3, ABCA4
Specificity
100 %
Genes
29 %
Stargardt Disease Type 1 , Sequencing ABCA4 Gene.

By Reference Laboratory Genetics in Spain.

ABCA4
Specificity
100 %
Genes
15 %
Cone Rod Distrophy Type 3 , Sequencing ABCA4 Gene.

By Reference Laboratory Genetics in Spain.

ABCA4
Specificity
100 %
Genes
15 %
Stargardt Disease Type 1 , Deletions-Duplications (MLPA) ABCA4 Gene.

By Reference Laboratory Genetics in Spain.

ABCA4
Specificity
100 %
Genes
15 %
Macular Degeneration Related Disorders , Panel Massive Sequencing (NGS) 15 Genes.

By Reference Laboratory Genetics in Spain.

CX3CR1, C9, ARMS2, CST3, C2, C3, CFH, CFI, CFB, ERCC6, HMCN1, RAX2, HTRA1, ABCA4, FBLN5
Specificity
7 %
Genes
15 %
Cone Rod Distrophy , Panel Massive Sequencing (NGS) 30 Genes.

By Reference Laboratory Genetics in Spain.

RGS9BP, CNNM4, PDE6H, RAX2, UNC119, RDH5, PITPNM3, GUCA1A, RIMS1, CERKL, RGS9, SEMA4A, KCNV2, CABP4, CACNA2D4, ADAM9, PDE6C, CDHR1, C8orf37, CRX , (...)

View the complete list with 10 more genes
Specificity
7 %
Genes
29 %
Stargardt Disease , Panel Massive Sequencing (NGS) 5 Genes.

By Reference Laboratory Genetics in Spain.

PROM1, PRPH2, CNGB3, ABCA4, ELOVL4
Specificity
40 %
Genes
29 %
Stargardt Disease , Panel Massive Sequencing (NGS) 12 Genes.

By Reference Laboratory Genetics in Spain.

CDH3, TIMP3, C1QTNF5, FSCN2, RDH12, RP1L1, PROM1, PRPH2, CNGB3, ABCA4, ELOVL4, BEST1
Specificity
17 %
Genes
29 %
Epilepsy Advanced Sequencing and CNV Evaluation - Neuronal Ceroid Lipofuscinosis.

By Athena Diagnostics Inc in United States.

ATP13A2, MFSD8, DNAJC5, CTSF, KCTD7, CLN5, PPT1, CLN8, CLN6, CLN3, TPP1, GRN, CTSD
Specificity
8 %
Genes
15 %
Epilepsy Advanced Sequencing and CNV Evaluation.

By Athena Diagnostics Inc in United States.

IQSEC2, ATRX, SMS, OFD1, SERPINI1, KIF1BP, CNTNAP2, RNASEH2B, RNASEH2C, RNASEH2A, TCF4, KCNJ10, SAMHD1, PNKP, SPTAN1, PLCB1, ANKRD11, PIGV, PIGN, DYRK1A , (...)

View the complete list with 214 more genes
Specificity
1 %
Genes
15 %
NGS Neuronal Ceroid Lipofuscinosis Panel.

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

MFSD8, DNAJC5, CLN5, PPT1, CLN8, CLN6, CLN3, TPP1, CTSD
Specificity
12 %
Genes
15 %
NGS Epilepsy/Seizure Panel.

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

ATR, PCNT, FLVCR2, CDK5RAP2, GLI2, CDON, FOXH1, NODAL, ABCB1, CEP152, NALCN, ZIC2, TGIF1, TUBB2A, TSEN2, TSEN34, EXOSC3, KCNAB1, VANGL1, MTOR , (...)

View the complete list with 125 more genes
Specificity
1 %
Genes
15 %
Lysosomal Storage Disease Panel.

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

DYM, ANTXR2, ADAMTSL2, CTSC, HYAL1, NAGA, LAMP2, NEU1, PEX5, PEX12, PEX10, PEX26, PEX16, PEX3, PEX13, PEX19, PEX14, FUCA1, PEX6, COL11A2 , (...)

View the complete list with 55 more genes
Specificity
2 %
Genes
15 %
Test for MFSD8-Related Neuronal Ceroid-Lipofuscinosis.

By Genome Diagnostics Laboratory The Hospital for Sick Children in Canada.

MFSD8
Specificity
100 %
Genes
15 %
NCL Panel.

By Genome Diagnostics Laboratory The Hospital for Sick Children in Canada.

MFSD8, CLN5, CLN8, CLN6, CLN3, TPP1, CTSD
Specificity
15 %
Genes
15 %
Childhood Epilepsy.

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

ZEB2, SYN1, CNTNAP2, PNKP, NRXN1, WDR45, MAGI2, MFSD8, TBC1D24, MBD5, GRIN2A, GABRG2, GABRA1, EPM2A, CHRNA4, CHRNA2, FOLR1, SCN2A, SCN1B, PRICKLE1 , (...)

View the complete list with 27 more genes
Specificity
3 %
Genes
15 %
Epilepsy/Seizure.

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

PSPH, PCBD1, ZEB2, CASK, OPHN1, SYN1, ARHGEF9, CNTNAP2, KCNJ10, PNKP, SPTAN1, PLCB1, NRXN1, SCN8A, WDR45, MAGI2, MFSD8, DNAJC5, ADGRG1, PAFAH1B1 , (...)

View the complete list with 78 more genes
Specificity
2 %
Genes
15 %
Infantile Epilepsy.

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

PCBD1, ZEB2, CNTNAP2, TCF4, KCNJ10, PNKP, SPTAN1, NRXN1, SCN8A, WDR45, MAGI2, MFSD8, PRRT2, TBC1D24, MBD5, GRIN2A, GABRG2, PNPO, KCNQ3, KCNQ2 , (...)

View the complete list with 40 more genes
Specificity
2 %
Genes
15 %
Neuronal Ceroid-Lipofuscinoses Panel.

By Genetic Services Laboratory University of Chicago in United States.

MFSD8, DNAJC5, CTSF, CLN5, PPT1, CLN8, CLN6, CLN3, TPP1, GRN, CTSD
Specificity
10 %
Genes
15 %
Dystonia Exome Panel.

By Genetic Services Laboratory University of Chicago in United States.

NUP62, ACY1, SLC30A10, ADCY5, GNAL, BCAP31, ECHS1, LIPT1, KCTD17, HPCA, XPR1, ANO3, HIVEP2, GNB1, DNAJC6, SLC39A14, VAC14, UBA5, TBCD, MECR , (...)

View the complete list with 150 more genes
Specificity
1 %
Genes
15 %
Ataxia Exome Panel.

By Genetic Services Laboratory University of Chicago in United States.

PIGG, CHAMP1, THG1L, VWA3B, CWF19L1, WDR73, TMEM240, SNX14, APOPT1, CHCHD10, PRDM8, PET100, RNF170, POLR3B, POLR3A, WDR81, COA5, ZNF592, XPA, TRNT1 , (...)

View the complete list with 460 more genes
Specificity
1 %
Genes
15 %
Lysosomal Storage Disease Panel.

By Molecular Genetics Laboratory London Health Sciences Centre in Canada.

GNPTG, HYAL1, NAGA, LAMP2, NEU1, FUCA1, MFSD8, DNAJC5, ASAH1, CLN5, SUMF1, SLC17A5, MCOLN1, PPT1, CTNS, CLN8, CLN6, NPC2, NPC1, LIPA , (...)

View the complete list with 30 more genes
Specificity
2 %
Genes
15 %
Comprehensive Epilepsy Panel.

By GeneDx in United States.

ZEB2, ATP6AP2, SYN1, CNTNAP2, TCF4, KCNJ10, PNKP, SPTAN1, NRXN1, SCN8A, KANSL1, MAGI2, MFSD8, DNAJC5, SRPX2, PRRT2, TBC1D24, SCARB2, MBD5, GRIN2A , (...)

View the complete list with 50 more genes
Specificity
2 %
Genes
15 %
Infantile Epilepsy Panel.

By GeneDx in United States.

ZEB2, ATP6AP2, CNTNAP2, TCF4, KCNJ10, PNKP, SPTAN1, NRXN1, SCN8A, KANSL1, MAGI2, MFSD8, PRRT2, TBC1D24, MBD5, GRIN2A, GABRG2, GABRA1, PNPO, KCNQ3 , (...)

View the complete list with 33 more genes
Specificity
2 %
Genes
15 %
Childhood-Onset Epilepsy Panel.

By GeneDx in United States.

ZEB2, SYN1, CNTNAP2, TCF4, PNKP, NRXN1, KANSL1, MAGI2, MFSD8, TBC1D24, MBD5, GRIN2A, GABRG2, GABRA1, EPM2A, CHRNA4, CHRNA2, FOLR1, SCN2A, SCN1B , (...)

View the complete list with 30 more genes
Specificity
2 %
Genes
15 %
Progressive Myoclonic Epilepsy Panel.

By GeneDx in United States.

MFSD8, DNAJC5, SCARB2, EPM2A, FOLR1, PRICKLE1, KCTD7, NHLRC1, GOSR2, CSTB, CLN5, PPT1, CLN8, CLN6, CLN3, TPP1, CTSD
Specificity
6 %
Genes
15 %
MFSD8-Related Neuronal Ceroid-Lipofuscinosis.

By Clinic of Pediatrics and Adolescent Medicine General University Hospital in Prague and First Faculty of Medicine, Charles University in Prague in Czech Republic.

MFSD8
Specificity
100 %
Genes
15 %
CustomNext: Neuro.

By Ambry Genetics in United States.

KAT6A, DDX3X, POGZ, CA8, CC2D1A, MAN1B1, TRAPPC9, LINS1, MED23, CTCF, PACS1, KATNAL2, SATB2, AP4B1, SMARCA2, SMARCB1, SMARCA4, NSUN2, SLC16A2, BRWD3 , (...)

View the complete list with 176 more genes
Specificity
1 %
Genes
15 %
Neurodevelopment-Expanded.

By Ambry Genetics in United States.

KAT6A, DDX3X, POGZ, CA8, CC2D1A, MAN1B1, TRAPPC9, LINS1, MED23, CTCF, PACS1, KATNAL2, SATB2, AP4B1, SMARCA2, SMARCB1, SMARCA4, NSUN2, SLC16A2, BRWD3 , (...)

View the complete list with 176 more genes
Specificity
1 %
Genes
15 %
EpilepsyNext.

By Ambry Genetics in United States.

ZEB2, CASK, SYN1, ARHGEF9, IQSEC2, CNTNAP2, TCF4, KCNJ10, PNKP, SPTAN1, PLCB1, DYRK1A, GRIN1, NRXN1, PIGA, SCN8A, ST3GAL3, WDR45, GNAO1, SZT2 , (...)

View the complete list with 80 more genes
Specificity
1 %
Genes
15 %
EpiRapid reflex EpilepsyNext.

By Ambry Genetics in United States.

ZEB2, CASK, SYN1, ARHGEF9, IQSEC2, CNTNAP2, TCF4, KCNJ10, PNKP, SPTAN1, PLCB1, DYRK1A, GRIN1, NRXN1, PIGA, SCN8A, ST3GAL3, WDR45, GNAO1, SZT2 , (...)

View the complete list with 80 more genes
Specificity
1 %
Genes
15 %
MFSD8. Complete sequencing.

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

MFSD8
Specificity
100 %
Genes
15 %
MFSD8. Complete sequencing.

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

MFSD8
Specificity
100 %
Genes
15 %
CHOP Epilepsy Panel.

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

PIGT, SLC12A5, HDAC4, CNKSR2, ZEB2, CASK, SYN1, ARHGEF9, IQSEC2, KCNJ10, PNKP, SPTAN1, PLCB1, GRIN1, PIGA, SCN8A, ST3GAL3, WDR45, GNAO1, SZT2 , (...)

View the complete list with 69 more genes
Specificity
2 %
Genes
15 %
Neuronal ceroid lipofuscinosis 7 (CLN7, sequence analysis of MFSD8 gene).

By CGC Genetics in Portugal.

MFSD8
Specificity
100 %
Genes
15 %
Neuronal ceroid lipofuscinosis (NGS panel for 9 genes).

By CGC Genetics in Portugal.

MFSD8, DNAJC5, CLN5, PPT1, CLN8, CLN6, CLN3, TPP1, CTSD
Specificity
12 %
Genes
15 %
Lysosomal and peroxisomal diseases (NGS panel of 109 genes).

By CGC Genetics in Portugal.

SC5D, SIAE, IGF2R, EHHADH, FAR1, ABCD3, PMVK, ATP6AP1, MFF, ECM1, ACP2, VMA21, DNASE1, PEX11B, LAMTOR2, ATP6V0A4, IDH1, VIPAS39, TRIM37, GNPAT , (...)

View the complete list with 88 more genes
Specificity
1 %
Genes
15 %
Lysosomal and peroxisomal diseases (NGS panel of 109 genes).

By CGC Genetics in Portugal.

SC5D, SIAE, IGF2R, EHHADH, FAR1, ABCD3, PMVK, ATP6AP1, MFF, ECM1, ACP2, VMA21, DNASE1, PEX11B, LAMTOR2, ATP6V0A4, IDH1, VIPAS39, TRIM37, GNPAT , (...)

View the complete list with 88 more genes
Specificity
1 %
Genes
15 %
Early Infantile Epileptic Encephalopathy Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

TNK2, NPRL2, ACY1, ARHGEF9, CNTNAP2, KCNJ10, PNKP, SPTAN1, PLCB1, NRXN1, SCN8A, ROGDI, ST3GAL3, GNAO1, SZT2, SLC13A5, KCNB1, KCNA2, MFSD8, CTSF , (...)

View the complete list with 62 more genes
Specificity
2 %
Genes
15 %
Comprehensive Epilepsy and Seizure Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

CARS2, KCNH1, SLC1A2, PLPBP, SON, RORB, HCN2, GRIN2D, FRRS1L, CAD, NACC1, TNK2, NPRL2, NPRL3, SCN10A, PIGG, ACY1, GNB1, TUBG1, IER3IP1 , (...)

View the complete list with 133 more genes
Specificity
1 %
Genes
15 %
Neuronal Ceroid Lipofuscinosis 7 via MFSD8 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

MFSD8
Specificity
100 %
Genes
15 %
Neuronal Ceroid Lipofuscinoses (Batten Disease) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

ATP13A2, MFSD8, DNAJC5, CTSF, KCTD7, CLN5, PPT1, CLN8, CLN6, CLN3, TPP1, GRN, CTSD
Specificity
8 %
Genes
15 %
Epilepsy and Seizure Plus Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

DENND5A, RBFOX3, HECW2, GUF1, KPNA7, STRADA, RAB11A, NUS1, ITPA, CNTN2, SNX27, ARHGEF15, PPP3CA, PIK3AP1, JMJD1C, AP3B2, FASN, YWHAG, KCND2, RYR3 , (...)

View the complete list with 202 more genes
Specificity
1 %
Genes
15 %
Mental retardation - different panels.

By Institute of Human Genetics Cologne University in Germany.

EEF1B2, UBR7, PARP1, CAPN10, SLC31A1, TRMT1, PGAP2, GMPPA, TANGO2, IMPA1, RALGDS, ZBTB40, KCNK9, SETD1A, HERC2, TM4SF20, AHDC1, CCDC88A, ACBD6, KDM5A , (...)

View the complete list with 847 more genes
Specificity
1 %
Genes
15 %
MFSD8-Related Neuronal Ceroid-Lipofuscinosis.

By Bioscientia GmbH Center for Human Genetics in Germany.

MFSD8
Specificity
100 %
Genes
15 %
CLN7-Related Neuronal Ceroid-Lipofuscinosis.

By Bioscientia GmbH Center for Human Genetics in Germany.

MFSD8
Specificity
100 %
Genes
15 %
Metabolic disease with epilepsy panel.

By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands.

PPT2, GPHN, GLRA1, GLRB, MFSD8, DNAJC5, PNPO, FOLR1, CLN5, PPT1, CLN8, CLN6, SLC2A1, CLN3, TPP1, ALDH7A1, AMT, GLDC, GCSH, CTSD , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
15 %
AllNeuro panel.

By Centogene AG - the Rare Disease Company in Germany.

FCGR2B, TNF, ALOX5AP, PRKCH, TLR5, TIRAP, NOS2, XBP1, KCNK18, AANAT, SNIP1, EIF4E, ZBTB18, ADAM10, YAP1, ICAM1, SNX3, CISH, TAS2R38, FRG1 , (...)

View the complete list with 1185 more genes
Specificity
1 %
Genes
15 %
Ceroid lipofuscinosis, neuronal type 7.

By Centogene AG - the Rare Disease Company in Germany.

MFSD8
Specificity
100 %
Genes
15 %
Neuronal Ceroid Lipofuscinosis and Progressive Myoclonic Epilepsy Panel.

By CeGaT GmbH in Germany.

SERPINI1, MFSD8, DNAJC5, CTSF, ASAH1, SCARB2, EPM2A, PRICKLE2, PRICKLE1, KCTD7, NHLRC1, GOSR2, CSTB, CLN5, PPT1, CLN8, CLN6, CLN3, TPP1, GRN , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
15 %
Neuronal Ceroidlipofuscinosis (NCL) Panel.

By CeGaT GmbH in Germany.

ATP13A2, MFSD8, DNAJC5, CTSF, KCTD7, CLN5, PPT1, CLN8, CLN6, CLN3, TPP1, GRN, CTSD
Specificity
8 %
Genes
15 %
Single gene testing MFSD8.

By CeGaT GmbH in Germany.

MFSD8
Specificity
100 %
Genes
15 %
Lysosomal Storage Disease.

By Asper Biogene Asper Biogene LLC in Estonia.

GNPTG, CTSC, HYAL1, NAGA, LAMP2, NEU1, FUCA1, MFSD8, DNAJC5, ASAH1, CLN5, SUMF1, SLC17A5, MCOLN1, PPT1, CTNS, CLN8, CLN6, NPC2, NPC1 , (...)

View the complete list with 30 more genes
Specificity
2 %
Genes
15 %
Neuronal ceroid lipofuscinosis panel.

By Molecular Vision Laboratory in United States.

MFSD8, DNAJC5, CLN5, PPT1, CLN8, CLN6, CLN3, TPP1, CTSD
Specificity
12 %
Genes
15 %
Invitae Epilepsy Panel.

By Invitae in United States.

ITPA, SNX27, FRRS1L, NGLY1, GLRA1, C12orf57, PACS1, IER3IP1, SATB2, ZDHHC9, EHMT1, ZEB2, CASK, SYN1, ARHGEF9, IQSEC2, ATRX, SERPINI1, CNTNAP2, TCF4 , (...)

View the complete list with 105 more genes
Specificity
1 %
Genes
15 %
Invitae Comprehensive Neuronal Ceroid Lipofuscinoses Panel.

By Invitae in United States.

MFSD8, KCTD7, CLN5, PPT1, CLN8, CLN6, CLN3, TPP1, CTSD
Specificity
12 %
Genes
15 %
Invitae Comprehensive Lysosomal Storage Disorders Panel.

By Invitae in United States.

GNPTG, HYAL1, NAGA, LAMP2, NEU1, FUCA1, ATP13A2, MFSD8, DNAJC5, CTSF, ASAH1, KCTD7, CLN5, SUMF1, SLC17A5, MCOLN1, PPT1, CTNS, CLN8, CLN6 , (...)

View the complete list with 32 more genes
Specificity
2 %
Genes
15 %
Ceroid Lipofuscinosis, Neuronal type 7: MFSD8 gene sequence analysis.

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

MFSD8
Specificity
100 %
Genes
15 %
Neuronal Ceroid-Lipofuscinoses.

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

ATP13A2, MFSD8, DNAJC5, CTSF, KCTD7, CLN5, PPT1, CLN8, CLN6, CLN3, TPP1, GRN, CTSD
Specificity
8 %
Genes
15 %
Neuronal Ceroid-Lipofuscinoses: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

MFSD8, KCTD7, CLN5, PPT1, CLN8, CLN6, CLN3, TPP1, GRN, CTSD
Specificity
10 %
Genes
15 %
Epilepsy and Seizure Disorders: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ZEB2, CASK, ATP6AP2, OPHN1, SYN1, ARHGEF9, PHF6, CNTNAP2, TCF4, KCNJ10, PNKP, SPTAN1, PLCB1, NRXN1, SCN8A, ST3GAL3, MAGI2, MFSD8, DNAJC5, SRPX2 , (...)

View the complete list with 90 more genes
Specificity
1 %
Genes
15 %
Lysosomal Storage Disorders: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ADAMTS10, LTBP2, GNPTG, HYAL1, NAGA, LAMP2, NEU1, FUCA1, ATP13A2, MFSD8, DNAJC5, ASAH1, KCTD7, CLN5, SUMF1, SLC17A5, MCOLN1, PPT1, CTNS, CLN8 , (...)

View the complete list with 35 more genes
Specificity
2 %
Genes
15 %
Neurology: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

MAPK10, POC1A, ORC4, ORC6, CDT1, CDC6, NIN, CEP63, KNL1, CEP135, ZNF335, RTTN, DISP1, VLDLR, MYCN, RBBP8, RAB18, EOMES, CEP41, KIF7 , (...)

View the complete list with 144 more genes
Specificity
1 %
Genes
15 %
Inherited Metabolic Disorders: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

SERAC1, CD320, HYAL1, NAGA, NEU1, MFSD8, CLN5, SUMF1, SLC17A5, MCOLN1, SLC7A7, PPT1, CLN8, CLN6, NPC2, NPC1, LIPA, IDUA, IDS, GLA , (...)

View the complete list with 81 more genes
Specificity
1 %
Genes
15 %
Epilepsy and Seizure Disorders: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ZEB2, CASK, ATP6AP2, OPHN1, SYN1, ARHGEF9, PHF6, CNTNAP2, TCF4, KCNJ10, PNKP, SPTAN1, PLCB1, NRXN1, SCN8A, ST3GAL3, MAGI2, MFSD8, DNAJC5, SRPX2 , (...)

View the complete list with 87 more genes
Specificity
1 %
Genes
15 %
Epilepsy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

EFHC2, CELSR1, GPHN, SLC6A5, GLRA1, GLRB, SCN10A, BUB1B, MAPK10, COL18A1, ACY1, MED17, SNAP29, LIG4, NHEJ1, SLC46A1, ARL13B, RPGRIP1L, PGK1, SCN4B , (...)

View the complete list with 323 more genes
Specificity
1 %
Genes
15 %
Lysosomal Disorders NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

ACY1, SLC46A1, PGK1, GNPTG, DYM, ANTXR2, ADAMTSL2, CTSC, HYAL1, NAGA, LAMP2, NEU1, PEX5, PEX12, PEX10, PEX26, PEX16, PEX3, PEX13, PEX19 , (...)

View the complete list with 86 more genes
Specificity
1 %
Genes
15 %
Intellectual Disability NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

AQP7, TPH2, AFP, XIST, SNIP1, ZBTB24, GLUL, DIP2B, KCNK9, UPB1, CEP57, FTO, ZBTB16, TMCO1, IRX5, AGT, IGF1R, MRAP, HDAC4, IGF1 , (...)

View the complete list with 372 more genes
Specificity
1 %
Genes
15 %
Neuronal Ceroid Lipofuscinoses NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

MFSD8, DNAJC5, KCTD7, CLN5, PPT1, CLN8, CLN6, CLN3, TPP1, CTSD
Specificity
10 %
Genes
15 %
Nuclear-Mito NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

CNR1, CHDH, CLYBL, NIPSNAP3A, IDE, IMMT, LETM1, MAVS, RAB11FIP5, POLRMT, PTGES2, PPARGC1A, AS3MT, ACSM3, ACSL5, DMAC2, ATP10D, NDUFB1, HK2, ECI1 , (...)

View the complete list with 484 more genes
Specificity
1 %
Genes
15 %
MFSD8.

By Fulgent Genetics Fulgent Genetics in United States.

MFSD8
Specificity
100 %
Genes
15 %
Early-Onset Epileptic Encephalopathy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

RBFOX3, KPNA7, ARHGEF15, HCN2, TNK2, SLC12A5, ACY1, KCNH5, MTOR, NEDD4L, CLCN4, ZEB2, ATP6AP2, SYN1, ARHGEF9, IQSEC2, CNTNAP2, TCF4, KCNJ10, PNKP , (...)

View the complete list with 113 more genes
Specificity
1 %
Genes
15 %
Comprehensive Epilepsy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

RANGAP1, EFHC2, CELSR1, NIPA2, UBR5, VDAC1, BRD2, RBFOX3, KPNA7, CNTN2, ARHGEF15, PIK3AP1, FASN, RYR3, GABBR2, HCN2, TNK2, SRGAP2, GPHN, SLC12A5 , (...)

View the complete list with 427 more genes
Specificity
1 %
Genes
15 %
NCL and Progressive Myoclonic Epilepsy Panel.

By Blueprint Genetics in Finland.

CERS1, NEU1, SERPINI1, ATP13A2, MFSD8, DNAJC5, CTSF, BRAT1, TBC1D24, ASAH1, SCARB2, EPM2A, KCNC1, GABRB2, FOLR1, PRICKLE1, KCTD7, NHLRC1, GOSR2, CSTB , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
15 %
Lysosomal Disorders and Mucopolysaccharidosis Panel.

By Blueprint Genetics in Finland.

ACY1, MAN1B1, SLC46A1, PGK1, GNPTG, DYM, ANTXR2, ADAMTSL2, CTSC, HYAL1, NAGA, LAMP2, NEU1, PEX5, PEX12, PEX10, PEX26, PEX16, PEX3, PEX13 , (...)

View the complete list with 82 more genes
Specificity
1 %
Genes
15 %
Comprehensive Metabolism Panel.

By Blueprint Genetics in Finland.

PRKAG3, NIPA2, GLUL, SLC6A9, SLC25A26, ADK, GMPPA, TANGO2, COQ5, COQ7, MOCOS, FLAD1, CTH, DPYS, UPB1, ALAD, ABCD3, STT3A, STT3B, NGLY1 , (...)

View the complete list with 414 more genes
Specificity
1 %
Genes
15 %
Comprehensive Epilepsy Panel.

By Blueprint Genetics in Finland.

SNORD118, SLC39A8, YY1, TBCK, RMND1, MRPL44, GTPBP3, HECW2, WDR26, LYRM7, DARS, KCNH1, NACC1, DPYS, UNC80, FAR1, AIMP1, ECM1, GPHN, PIGT , (...)

View the complete list with 263 more genes
Specificity
1 %
Genes
15 %
Ceroid lipofuscinosis, neuronal, 7.

By Bioarray in Spain.

MFSD8
Specificity
100 %
Genes
15 %
Ceroid lipofuscinosis, neuronal, 5.

By Bioarray in Spain.

MFSD8
Specificity
100 %
Genes
15 %
NEURONAL CEROID LIPOFUSCINOSIS.

By Laboratorio de Genetica Clinica SL in Spain.

MFSD8, DNAJC5, CLN5, PPT1, CLN8, CLN6, CLN3, TPP1, CTSD
Specificity
12 %
Genes
15 %
Neuronal Ceroid Lipofuscinoses Type 7, Sequencing MFSD8 Gene.

By Reference Laboratory Genetics in Spain.

MFSD8
Specificity
100 %
Genes
15 %
Neuronal Ceroid Lipofuscinoses , Panel Massive Sequencing (NGS) 11 Genes.

By Reference Laboratory Genetics in Spain.

MFSD8, DNAJC5, KCTD7, CLN5, PPT1, CLN8, CLN6, CLN3, TPP1, GRN, CTSD
Specificity
10 %
Genes
15 %
Peroxisomal and Lysosomal Diseases , Panel Massive Sequencing (NGS) 78 Genes.

By Reference Laboratory Genetics in Spain.

AGXT2, FAR1, PEX11B, TRIM37, GNPAT, GNPTG, CTSC, HYAL1, NAGA, LAMP2, NEU1, PEX5, PEX12, PEX10, PEX26, PEX16, PEX3, PEX13, PEX19, PEX14 , (...)

View the complete list with 58 more genes
Specificity
2 %
Genes
15 %
Storage and Energetic Metabolism Diseases , Panel Massive Sequencing (NGS) 82 genes.

By Reference Laboratory Genetics in Spain.

PCK1, GNPAT, GNPTG, HYAL1, NAGA, NEU1, PEX5, PEX12, PEX10, PEX26, PEX16, PEX3, PEX13, PEX19, PEX14, FUCA1, PEX6, MFSD8, DNAJC5, CTSF , (...)

View the complete list with 62 more genes
Specificity
2 %
Genes
15 %
Achromatopsia Type - CNGB3 Sequencing.

By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado in United States.

CNGB3
Specificity
100 %
Genes
15 %
Acromatopsia, CNGA3/CNGB3, Sequencing.

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

CNGA3, CNGB3
Specificity
50 %
Genes
15 %
CNGB3.

By Institute for Human Genetics University Clinic Freiburg in Germany.

CNGB3
Specificity
100 %
Genes
15 %
CNGB3 mutation analysis.

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam in Netherlands.

CNGB3
Specificity
100 %
Genes
15 %
CNGB3. Detection of the mutation c.1148delC by sequencing.

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

CNGB3
Specificity
100 %
Genes
15 %
CNGB3. Complete sequencing.

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

CNGB3
Specificity
100 %
Genes
15 %
Achromatopsia 3 (sequence analysis of CNGB3 gene).

By CGC Genetics in Portugal.

CNGB3
Specificity
100 %
Genes
15 %
Achromatopsia via CNGB3 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

CNGB3
Specificity
100 %
Genes
15 %
Achromatopsia (ACHM) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

PDE6H, ATF6, CNGA3, PDE6C, GNAT2, CNGB3
Specificity
17 %
Genes
15 %
Achromatopsia type 3.

By Centogene AG - the Rare Disease Company in Germany.

CNGB3
Specificity
100 %
Genes
15 %
Stargardt Disease type 1.

By Centogene AG - the Rare Disease Company in Germany.

CNGB3
Specificity
100 %
Genes
15 %
Achromatopsia Panel.

By CeGaT GmbH in Germany.

PDE6H, ATF6, CNGA3, PDE6C, GNAT2, CNGB3
Specificity
17 %
Genes
15 %
Single gene testing CNGB3.

By CeGaT GmbH in Germany.

CNGB3
Specificity
100 %
Genes
15 %
Achromatopsia.

By Asper Biogene Asper Biogene LLC in Estonia.

PDE6H, ATF6, CNGA3, PDE6C, GNAT2, CNGB3
Specificity
17 %
Genes
15 %
CNGB3-Related Stargardt Disease 1.

By Labor-MVZ Westmecklenburg Laboratory for Molecular Diagnostics in Germany.

CNGB3
Specificity
100 %
Genes
15 %
Achromatopsia panel.

By Molecular Vision Laboratory in United States.

PDE6H, ATF6, CNGA3, PDE6C, GNAT2, CNGB3
Specificity
17 %
Genes
15 %
CNGB3 single gene sequencing.

By Molecular Vision Laboratory in United States.

CNGB3
Specificity
100 %
Genes
15 %
Family Prep Screen.

By Counsyl in United States.

BCHE, HGD, F11, MEFV, VPS13B, CYP21A2, TMEM216, DPYD, PKHD1, LAMC2, CLN5, ABCC8, TTPA, SLC17A5, SLC12A6, POMGNT1, PEX1, MCOLN1, MLC1, LAMA3 , (...)

View the complete list with 90 more genes
Specificity
1 %
Genes
15 %
Achromatopsia.

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

PDE6H, CNGA3, PDE6C, GNAT2, CNGB3
Specificity
20 %
Genes
15 %
Pan-Ethnic Carrier Screen: Gene Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

HMOX1, LIPH, NLRP7, EDAR, WISP3, WRN, GP9, TTC37, GP1BB, F9, VWF, F11, MEFV, CTSC, SLC19A2, VPS13B, CYP21A2, GHRHR, TMEM216, DPYD , (...)

View the complete list with 127 more genes
Specificity
1 %
Genes
15 %
Achromatopsia NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

CNGA3, PDE6C, GNAT2, CNGB3
Specificity
25 %
Genes
15 %
CNGB3.

By Fulgent Genetics Fulgent Genetics in United States.

CNGB3
Specificity
100 %
Genes
15 %
Achromatopsia Panel.

By Blueprint Genetics in Finland.

RGS9BP, PDE6H, ATF6, CNGA3, RGS9, PDE6C, GNAT2, CNGB3
Specificity
13 %
Genes
15 %
Achromatopsia type 3.

By Bioarray in Spain.

CNGB3
Specificity
100 %
Genes
15 %
ACHROMATOPSIA.

By Laboratorio de Genetica Clinica SL in Spain.

PDE6H, CNGA3, PDE6C, GNAT2, CNGB3
Specificity
20 %
Genes
15 %
Autosomal Recessive Achromatopsia , Sequencing CNGB3 Gene.

By Reference Laboratory Genetics in Spain.

CNGB3
Specificity
100 %
Genes
15 %
Achromatopsia , Panel Massive Sequencing (NGS) 5 Genes.

By Reference Laboratory Genetics in Spain.

PDE6H, CNGA3, PDE6C, GNAT2, CNGB3
Specificity
20 %
Genes
15 %
Pan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

HMOX1, LIPH, NLRP7, EDAR, WISP3, WRN, GP9, TTC37, GP1BB, F11, MEFV, CTSC, SLC19A2, VPS13B, CYP21A2, GHRHR, TMEM216, DPYD, PKHD1, LAMC2 , (...)

View the complete list with 116 more genes
Specificity
1 %
Genes
15 %

Alternate names

Stargardt Disease 1; Stgd1 Is also known as stgd, macular degeneration, juvenile, macular dystrophy with flecks, type 1;eosrd; early-onset severe retinal dystrophy; secord.



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