Chromosome 1p36 Deletion Syndrome

Description

The constitutional deletion of chromosome 1p36 results in a syndrome with multiple congenital anomalies and mental retardation (Shapira et al., 1997). Monosomy 1p36 is the most common terminal deletion syndrome in humans, occurring in 1 in 5,000 births (Shaffer and Lupski, 2000; Heilstedt et al., 2003).See also neurodevelopmental disorder with or without anomalies of the brain, eye, or heart (NEDBEH ), which shows overlapping features and is caused by heterozygous mutation in the RERE gene (OMIM ) on proximal chromosome 1p36.

Clinical Features

Top most frequent phenotypes and symptoms related to Chromosome 1p36 Deletion Syndrome

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Pica
  • Hearing impairment
  • Microcephaly
  • Scoliosis
  • Hypertelorism
And another 163 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.


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Chromosome 1p36 Deletion Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
NGS Aortic Dysfunction or Dilation and Related Disorders Panel.

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

FBLN5, COL1A1, COL3A1, ELN, FBN1, CBS, COL5A1, COL5A2, PLOD1, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2, SKI, MYLK, FBN2, ACTA2, SLC2A10, MYH11
Specificity
5 %
Genes
20 %
NGS Connective Tissue Disorders Panel.

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

ATP7A, FBLN5, COL2A1, COL1A1, COL1A2, COL3A1, ELN, ATP6V0A2, FBN1, SLC39A13, CBS, COL5A1, COL5A2, PLOD1, ADAMTS2, PKD2, COL11A1, TGFB2, NOTCH1, SMAD3 , (...)

View the complete list with 15 more genes
Specificity
3 %
Genes
20 %
Congenital Contractures Panel.

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

FKBP10, COL3A1, FBN1, PLOD3, SLC39A13, PLOD2, ALG2, CHAT, CHRNE, DOK7, NEB, RAPSN, DNM2, LMNA, UBA1, TPM3, ACTA1, CNTN1, TPM2, MYH2 , (...)

View the complete list with 37 more genes
Specificity
2 %
Genes
20 %
Familial Aneurysm Panel.

By Collagen Diagnostic Laboratory University of Washington in United States.

COL3A1, FBN1, PLOD3, CBS, SMAD4, TGFB2, SMAD3, TGFBR1, TGFBR2, SKI, MYLK, FBN2, ACTA2, SLC2A10, MYH11, FOXE3, TGFB3, PRKG1, MFAP5, MAT2A , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
20 %
Cardiomyopathy Panel.

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

TTR, GAA, COL3A1, EYA4, DSP, CRYAB, RAF1, FBN1, SCO2, TAZ, COX15, SURF1, CBS, FXN, COL5A1, COL5A2, BRAF, DMD, GLA, HRAS , (...)

View the complete list with 92 more genes
Specificity
1 %
Genes
20 %
Connective Tissue Disorders Panel.

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

B4GALT7, COL1A1, COL1A2, COL3A1, FBN1, SLC39A13, CBS, COL5A1, COL5A2, PLOD1, ADAMTS2, FLNA, MED12, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2, SKI, MYLK , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
20 %
Craniosynostosis.

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

RECQL4, ALPL, FBN1, FGFR3, FGFR2, FGFR1, WDR35, RAB23, POR, MSX2, TWIST1, TGFBR1, TGFBR2, SKI, GLI3, WDR19, ALX4, EFNB1, ASXL1, MASP1 , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
20 %
Familial Aneurysm and Aortopathy.

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

B4GALT7, COL1A1, COL1A2, COL3A1, FBN1, SLC39A13, CBS, COL5A1, COL5A2, PLOD1, ADAMTS2, FLNA, MED12, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2, SKI, MYLK , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
20 %
Thoracic Aortic Aneurysm Panel.

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

COL3A1, FBN1, CBS, FLNA, TGFB2, SMAD3, TGFBR1, TGFBR2, SKI, MYLK, FBN2, ACTA2, SLC2A10, MYH11
Specificity
8 %
Genes
20 %
SKI Sequencing.

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

SKI
Specificity
100 %
Genes
20 %
Craniofacial Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

RECQL4, FAM20C, FGFR3, RUNX2, FGFR2, FGFR1, FLNA, WDR35, RAB23, POR, MSX2, TWIST1, TGFBR1, TGFBR2, SKI, GLI3, WDR19, ALX4, EFNB1, IFT43 , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
20 %
Craniofacial Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago in United States.

RECQL4, FAM20C, FGFR3, RUNX2, FGFR2, FGFR1, FLNA, WDR35, RAB23, POR, MSX2, TWIST1, TGFBR1, TGFBR2, SKI, GLI3, WDR19, ALX4, EFNB1, IFT43 , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
20 %
SKI.

By Institute for Human Genetics University Clinic Freiburg in Germany.

SKI
Specificity
100 %
Genes
20 %
Aortopathy Panel, Sequencing and Deletion/Duplication, 21 Genes.

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

COL3A1, FBN1, PLOD3, CBS, COL5A1, COL5A2, PLOD1, SMAD4, FLNA, TGFB2, SMAD3, TGFBR1, TGFBR2, SKI, MYLK, FBN2, ACTA2, SLC2A10, MYH11, EFEMP2 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
20 %
Marfan/TAAD Sequencing Panel.

By GeneDx in United States.

COL3A1, FBN1, CBS, COL5A1, COL5A2, FLNA, MED12, TGFB2, SMAD3, TGFBR1, TGFBR2, SKI, FBN2, ACTA2, SLC2A10, MYH11
Specificity
7 %
Genes
20 %
Marfan/TAAD Sequencing & Del/Dup Panel.

By GeneDx in United States.

COL3A1, FBN1, CBS, COL5A1, COL5A2, FLNA, MED12, TGFB2, SMAD3, TGFBR1, TGFBR2, SKI, FBN2, ACTA2, SLC2A10, MYH11
Specificity
7 %
Genes
20 %
Connective Tissue Disorders Panel.

By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center in United States.

ATP7A, FBLN5, COL2A1, COL1A1, COL1A2, COL3A1, ELN, PYCR1, ATP6V0A2, FBN1, ALDH18A1, SLC39A13, CBS, COL5A1, COL5A2, PLOD1, SMAD4, ADAMTS2, PKD2, FLNA , (...)

View the complete list with 30 more genes
Specificity
2 %
Genes
20 %
Craniosynostosis.

By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center in United States.

RECQL4, FGFR3, RUNX2, FGFR2, FGFR1, WDR35, RAB23, POR, MSX2, TWIST1, TGFBR1, TGFBR2, SKI, GLI3, WDR19, EFNB1, ASXL1, IFT43, IL11RA, IFT122 , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
20 %
COL3A1 gene sequence and deletion/duplication reflex TAADNext.

By Ambry Genetics in United States.

COL3A1, FBN1, CBS, COL5A1, COL5A2, PLOD1, SMAD4, FLNA, MED12, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2, SKI, MYLK, FBN2, ACTA2, SLC2A10, MYH11 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
20 %
CustomNext: Cardio.

By Ambry Genetics in United States.

TTR, COL3A1, EYA4, JAG1, DSP, CRYAB, RAF1, FBN1, TAZ, CBS, FXN, COL5A1, COL5A2, DMD, GLA, PLOD1, PTPN11, SMAD4, FKTN, LMNA , (...)

View the complete list with 86 more genes
Specificity
1 %
Genes
20 %
TAADNext.

By Ambry Genetics in United States.

COL3A1, FBN1, CBS, COL5A1, COL5A2, PLOD1, SMAD4, FLNA, MED12, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2, SKI, MYLK, FBN2, ACTA2, SLC2A10, MYH11 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
20 %
FBN1 gene sequence and deletion/duplication reflex TAADNext.

By Ambry Genetics in United States.

COL3A1, FBN1, CBS, COL5A1, COL5A2, PLOD1, SMAD4, FLNA, MED12, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2, SKI, MYLK, FBN2, ACTA2, SLC2A10, MYH11 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
20 %
SKI. Complete sequencing.

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

SKI
Specificity
100 %
Genes
20 %
Craniosynostosis Sequence Analysis.

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

RECQL4, RUNX2, WDR35, RAB23, POR, MSX2, TWIST1, SKI, EFNB1, IFT43, IFT122, SPECC1L, MEGF8, ZIC1, ERF, TCF12, CD96
Specificity
6 %
Genes
20 %
Craniofacial Del/Dup Panel.

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

RECQL4, ALPL, EYA1, DHODH, CHD7, RUNX2, PRKAR1A, SALL1, POLR1C, SIX5, TCOF1, SIX1, POLR1D, WDR35, RAB23, POR, MSX2, TWIST1, SKI, GLI3 , (...)

View the complete list with 23 more genes
Specificity
3 %
Genes
20 %
Craniosynostosis Del/Dup Panel.

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

RECQL4, RUNX2, WDR35, RAB23, POR, MSX2, TWIST1, SKI, EFNB1, IFT43, IFT122, SPECC1L, MEGF8, ZIC1, ERF, TCF12, CD96
Specificity
6 %
Genes
20 %
Connective Tissue Seq Analysis.

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

FBLN5, COL1A1, COL1A2, COL3A1, FBN1, PLOD3, CBS, COL5A1, COL5A2, PLOD1, SMAD4, COL4A5, FLNA, MED12, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2, SKI , (...)

View the complete list with 15 more genes
Specificity
3 %
Genes
20 %
Craniosynostosis Seq + Del/Dup Panel.

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

RECQL4, RUNX2, WDR35, RAB23, POR, MSX2, TWIST1, SKI, EFNB1, IFT43, IFT122, SPECC1L, MEGF8, ZIC1, ERF, TCF12, CD96
Specificity
6 %
Genes
20 %
Craniofacial Seq + Del/Dup Panel.

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

RECQL4, ALPL, EYA1, DHODH, CHD7, RUNX2, PRKAR1A, SALL1, POLR1C, SIX5, TCOF1, SIX1, POLR1D, WDR35, RAB23, POR, MSX2, TWIST1, SKI, GLI3 , (...)

View the complete list with 23 more genes
Specificity
3 %
Genes
20 %
Connective Tissue Seq + Del/Dup Panel.

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

FBLN5, COL1A1, COL1A2, COL3A1, ELN, FBN1, PLOD3, CBS, COL5A1, COL5A2, PLOD1, SMAD4, COL4A5, FLNA, MED12, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2 , (...)

View the complete list with 16 more genes
Specificity
3 %
Genes
20 %
Connective Tissue Del/Dup Panel.

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

FBLN5, COL1A1, COL1A2, COL3A1, ELN, FBN1, PLOD3, CBS, COL5A1, COL5A2, PLOD1, SMAD4, COL4A5, FLNA, MED12, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2 , (...)

View the complete list with 16 more genes
Specificity
3 %
Genes
20 %
Craniofacial Seq Analysis.

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

RECQL4, ALPL, EYA1, DHODH, CHD7, RUNX2, PRKAR1A, SALL1, POLR1C, SIX5, TCOF1, SIX1, POLR1D, WDR35, RAB23, POR, MSX2, TWIST1, SKI, GLI3 , (...)

View the complete list with 23 more genes
Specificity
3 %
Genes
20 %
Shprintzen-Goldberg syndrome (sequence analysis of SKI gene).

By CGC Genetics in Portugal.

SKI
Specificity
100 %
Genes
20 %
Craniosynostosis (NGS panel for 30 genes).

By CGC Genetics in Portugal.

RECQL4, ALPL, FGFR3, FGFR2, FGFR1, WDR35, RAB23, POR, TWIST1, TGFBR1, TGFBR2, SKI, GLI3, IFT140, WDR19, SCARF2, ALX4, EFNB1, MASP1, IL11RA , (...)

View the complete list with 10 more genes
Specificity
4 %
Genes
20 %
Marfan Syndrome and Related Aortopathies Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

FBLN5, COL3A1, ELN, FBN1, CBS, COL5A1, COL5A2, PLOD1, SMAD4, FLNA, SMS, MED12, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2, SKI, MYLK, FBN2 , (...)

View the complete list with 10 more genes
Specificity
4 %
Genes
20 %
Shprintzen-Goldberg Syndrome via SKI Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

SKI
Specificity
100 %
Genes
20 %
Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, IFITM5, LRP5, COL2A1, COL1A1, COL1A2, COL3A1, SOST, TGFB1, LEMD3, TNFRSF11A, CLCN7, SHH, FBN1, DHODH , (...)

View the complete list with 238 more genes
Specificity
1 %
Genes
20 %
Craniosynostosis Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

RECQL4, FGFR3, FGFR2, FGFR1, WDR35, RAB23, POR, MSX2, TWIST1, TGFBR1, TGFBR2, SKI, GLI3, WDR19, EFNB1, IFT43, IL11RA, IFT122, FREM1, CDC45 , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
20 %
Craniosynostosis Comprehensive panel.

By Connective Tissue Gene Tests in United States.

RECQL4, FGFR3, FGFR2, FGFR1, WDR35, RAB23, POR, MSX2, TWIST1, TGFBR1, TGFBR2, SKI, GLI3, WDR19, EFNB1, IFT43, IL11RA, IFT122, FREM1, CDC45 , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
20 %
Craniosynostosis NGS panel.

By Connective Tissue Gene Tests in United States.

RECQL4, FGFR3, FGFR2, FGFR1, WDR35, RAB23, POR, MSX2, TWIST1, TGFBR1, TGFBR2, SKI, GLI3, WDR19, EFNB1, IFT43, IL11RA, IFT122, FREM1, CDC45 , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
20 %
Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders Comprehensive panel.

By Connective Tissue Gene Tests in United States.

COL3A1, FBN1, CBS, COL5A1, COL5A2, SMAD4, FLNA, MED12, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2, SKI, MYLK, FBN2, ACTA2, SLC2A10, MYH11, FOXE3 , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
20 %
Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

COL3A1, FBN1, CBS, COL5A1, COL5A2, SMAD4, FLNA, MED12, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2, SKI, MYLK, FBN2, ACTA2, SLC2A10, MYH11, FOXE3 , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
20 %
Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders NGS panel.

By Connective Tissue Gene Tests in United States.

COL3A1, FBN1, CBS, COL5A1, COL5A2, SMAD4, FLNA, MED12, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2, SKI, MYLK, FBN2, ACTA2, SLC2A10, MYH11, FOXE3 , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
20 %
Shprintzen-Goldberg craniosynostosis syndrome Deletion / Duplication test.

By Connective Tissue Gene Tests in United States.

SKI
Specificity
100 %
Genes
20 %
Shprintzen-Goldberg craniosynostosis syndrome Comprehensive test.

By Connective Tissue Gene Tests in United States.

SKI
Specificity
100 %
Genes
20 %
Shprintzen-Goldberg craniosynostosis syndrome NGS test.

By Connective Tissue Gene Tests in United States.

SKI
Specificity
100 %
Genes
20 %
Mental retardation - different panels.

By Institute of Human Genetics Cologne University in Germany.

FMR1, UBE3A, PTEN, MCCC1, MCCC2, ACAD9, PC, ANKH, HLCS, ATP7A, AUH, B4GALT7, BCKDHA, BCKDHB, BCS1L, C12orf65, ADSL, MMACHC, PRKCG, PAX6 , (...)

View the complete list with 847 more genes
Specificity
1 %
Genes
20 %
Marfan syndrome, EDS and other connective tissue disorders - different panels.

By Institute of Human Genetics Cologne University in Germany.

B4GALT7, COL1A1, COL1A2, COL3A1, ELN, FBN1, SLC39A13, CBS, COL5A1, COL5A2, PLOD1, SMAD4, ADAMTS2, COL4A5, FLNA, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2 , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
20 %
Vascular and connective tissue diseases - panels.

By MGZ Medical Genetics Center in Germany.

TTR, AGL, B4GALT7, ADSL, COL1A1, COL1A2, COL3A1, AMACR, POLG, AFG3L2, FBN1, AGK, SLC39A13, COQ8A, OTC, AIFM1, CBS, COL5A1, COL5A2, GLA , (...)

View the complete list with 47 more genes
Specificity
2 %
Genes
20 %
Thoracic Aortic Aneurysms and Aortic Dissections (TAAD).

By MGZ Medical Genetics Center in Germany.

COL3A1, FBN1, CBS, FLNA, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2, SKI, MYLK, ACTA2, SLC2A10, MYH11, EFEMP2, PRKG1
Specificity
7 %
Genes
20 %
Shprintzen-Goldberg syndrome.

By Centogene AG - the Rare Disease Company in Germany.

SKI
Specificity
100 %
Genes
20 %
AllNeuro panel.

By Centogene AG - the Rare Disease Company in Germany.

F2, F5, FMR1, HTT, HFE, MTHFR, TTR, UBE3A, VHL, PTEN, AARS2, ABHD12, ACACA, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1 , (...)

View the complete list with 1185 more genes
Specificity
1 %
Genes
40 %
Marfan, Loeys-Dietz syndrome and related disorders panel.

By Centogene AG - the Rare Disease Company in Germany.

COL3A1, FBN1, COL5A1, COL5A2, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2, SKI, FBN2, SLC2A10, EFEMP2, TGFB3, SMAD2
Specificity
7 %
Genes
20 %
Connective tissue disorders - Ehlers-Danlos syndrome, Marfan syndrome, Loeys-Dietz syndrome, Aortic Aneurysm.

By CeGaT GmbH in Germany.

ATP7A, B4GALT7, FBLN5, COL1A1, COL1A2, COL3A1, ELN, PYCR1, ATP6V0A2, FBN1, ALDH18A1, PLOD3, SLC39A13, COL5A1, COL5A2, PLOD1, ADAMTS2, COL4A1, TGFB2, SMAD3 , (...)

View the complete list with 24 more genes
Specificity
3 %
Genes
20 %
Connective tissue disorders - Ehlers-Danlos syndrome, Marfan syndrome, Loeys-Dietz syndrome, Aortic Aneurysm.

By CeGaT GmbH in Germany.

ATP7A, B4GALT7, FBLN5, COL1A1, COL1A2, COL3A1, ELN, PYCR1, ATP6V0A2, FBN1, ALDH18A1, PLOD3, SLC39A13, COL5A1, COL5A2, PLOD1, ADAMTS2, COL4A1, TGFB2, SMAD3 , (...)

View the complete list with 24 more genes
Specificity
3 %
Genes
20 %
Craniosynostosis syndromes Panel.

By CeGaT GmbH in Germany.

RECQL4, FGFR3, FGFR2, FGFR1, WDR35, RAB23, POR, MSX2, TWIST1, SKI, WDR19, ALX4, EFNB1, IFT43, IL11RA, IFT122, FREM1, MEGF8, ERF, TCF12
Specificity
5 %
Genes
20 %
Shprintzen-Goldberg syndrome.

By Medical Genetics Unit Sistemas Genómicos in Spain.

SKI
Specificity
100 %
Genes
20 %
HAD panel 1.

By Connective Tissue Laboratory Ghent University Hospital in Belgium.

COL3A1, FBN1, TGFB2, SMAD3, TGFBR1, TGFBR2, SKI, ACTA2, MYH11, TGFB3
Specificity
10 %
Genes
20 %
SKI mutational analysis.

By Connective Tissue Laboratory Ghent University Hospital in Belgium.

SKI
Specificity
100 %
Genes
20 %
Inherited Cardiovascular Diseases and Sudden Death Panel.

By Health in Code in Spain.

HFE, TTR, AARS2, ACAD9, ACADM, AGL, ACADVL, ATPAF2, GAA, COL1A1, COL1A2, COL3A1, PSEN1, ELN, EYA4, GNPTAB, GLB1, PITX2, JAG1, DSP , (...)

View the complete list with 193 more genes
Specificity
1 %
Genes
40 %
Aortic Valvular Diseases Panel.

By Health in Code in Spain.

GAA, COL1A1, COL1A2, COL3A1, ELN, FBN1, CBS, COL5A1, COL5A2, HRAS, PLOD1, PTPN11, SMAD4, FLNA, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2, SKI , (...)

View the complete list with 10 more genes
Specificity
4 %
Genes
20 %
Cardiovascular Diseases_General Panel.

By Health in Code in Spain.

HFE, TTR, AARS2, ACAD9, AGL, ACADVL, ATP5F1E, ATP7A, ATPAF2, B4GALT7, GAA, HNF1A, NEUROD1, PPARG, COL1A1, COL1A2, COL3A1, ELAC2, PSEN1, HNF1B , (...)

View the complete list with 360 more genes
Specificity
1 %
Genes
40 %
Aortic diseases Panel.

By Health in Code in Spain.

GAA, COL1A1, COL1A2, COL3A1, ELN, FBN1, CBS, COL5A1, COL5A2, HRAS, PLOD1, PTPN11, SMAD4, FLNA, MED12, ZDHHC9, TGFB2, NOTCH1, SMAD3, TGFBR1 , (...)

View the complete list with 15 more genes
Specificity
3 %
Genes
20 %
qGenEx Craniofacial Anomalies.

By Quantitative Genomic Medicine Laboratories, SL in Spain.

RECQL4, EYA1, COL2A1, PAX6, FOXC1, PITX2, OTX2, SHH, DHODH, BCOR, CTSK, FGFR3, CHD7, GJB6, IKBKG, PORCN, RUNX2, FGFR2, RAD21, SMC3 , (...)

View the complete list with 116 more genes
Specificity
1 %
Genes
20 %
Invitae Aortopathy Comprehensive Panel.

By Invitae in United States.

COL3A1, FBN1, CBS, COL5A1, COL5A2, PLOD1, SMAD4, FLNA, MED12, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2, SKI, MYLK, FBN2, ACTA2, SLC2A10, MYH11 , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
20 %
Craniosysostosis.

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

RECQL4, FGFR3, FGFR2, FGFR1, WDR35, RAB23, POR, MSX2, TWIST1, TGFBR1, TGFBR2, SKI, GLI3, WDR19, EFNB1, IFT43, IL11RA, IFT122, FREM1
Specificity
6 %
Genes
20 %
NGS panel - Aortic or arterial dilatation / dissection.

By Genome Diagnostics VU University Medical Center in Netherlands.

COL3A1, ELN, FBN1, PLOD1, SMAD4, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2, SKI, MYLK, FBN2, ACTA2, SLC2A10, MYH11, EFEMP2, TGFB3, SCARF2, PRKG1 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
20 %
NGS panel- Aortic or arterial dilatation/dissection.

By Genome Diagnostics VU University Medical Center in Netherlands.

COL3A1, ELN, FBN1, PLOD1, SMAD4, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2, SKI, MYLK, FBN2, ACTA2, SLC2A10, MYH11, EFEMP2, TGFB3, SCARF2, PRKG1 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
20 %
NGS panel- Aortic or arterial dilatation/dissection + COL5A1 + FLNA.

By Genome Diagnostics VU University Medical Center in Netherlands.

COL3A1, ELN, FBN1, COL5A1, PLOD1, SMAD4, FLNA, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2, SKI, MYLK, FBN2, ACTA2, SLC2A10, MYH11, EFEMP2, TGFB3 , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
20 %
NGS panel- Aortic or arterial dilatation/dissection + COL5A1.

By Genome Diagnostics VU University Medical Center in Netherlands.

COL3A1, ELN, FBN1, COL5A1, PLOD1, SMAD4, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2, SKI, MYLK, FBN2, ACTA2, SLC2A10, MYH11, EFEMP2, TGFB3, SCARF2 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
20 %
Marfan Syndrome, Thoracic Aortic Aneurysm & Dissection (TAAD), and Related Disorders: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

COL3A1, FBN1, CBS, COL5A1, COL5A2, FLNA, MED12, TGFB2, SMAD3, TGFBR1, TGFBR2, SKI, FBN2, ACTA2, SLC2A10, MYH11
Specificity
7 %
Genes
20 %
Comprehensive Cardiovascular: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

TTR, GAA, COL3A1, DSP, CRYAB, RAF1, FBN1, TAZ, CBS, SLC22A5, COL5A1, COL5A2, BRAF, DMD, GLA, HRAS, KRAS, MAP2K1, NRAS, PTPN11 , (...)

View the complete list with 97 more genes
Specificity
2 %
Genes
40 %
Comprehensive Cardiovascular: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

TTR, GAA, COL3A1, DSP, CRYAB, RAF1, FBN1, TAZ, CBS, COL5A1, COL5A2, BRAF, DMD, GLA, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SOS1 , (...)

View the complete list with 86 more genes
Specificity
1 %
Genes
20 %
Marfan Syndrome and Thoracic Aortic Aneurysm and Dissection NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

COL3A1, FBN1, CBS, COL5A1, COL5A2, FLNA, MED12, TGFB2, SMAD3, TGFBR1, TGFBR2, SKI, MYLK, FBN2, ACTA2, SLC2A10, MYH11
Specificity
6 %
Genes
20 %
SKI.

By Fulgent Genetics Fulgent Genetics in United States.

SKI
Specificity
100 %
Genes
20 %
Marfan Syndrome Panel.

By Blueprint Genetics in Finland.

COL2A1, COL1A1, COL1A2, COL3A1, FBN1, CBS, COL5A1, COL5A2, PLOD1, COL11A1, COL11A2, MED12, UPF3B, TGFB2, SMAD3, TGFBR1, TGFBR2, SKI, FBN2, SLC2A10 , (...)

View the complete list with 10 more genes
Specificity
4 %
Genes
20 %
Aorta Panel.

By Blueprint Genetics in Finland.

FBLN5, COL2A1, COL1A1, COL1A2, COL3A1, ELN, FBN1, ALDH18A1, SLC39A13, CBS, COL5A1, COL5A2, PLOD1, ADAMTS2, FLNA, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2 , (...)

View the complete list with 21 more genes
Specificity
3 %
Genes
20 %
Craniosynostosis Panel.

By Blueprint Genetics in Finland.

RECQL4, ALPL, FGFR3, FGFR2, FGFR1, PAX3, EDNRB, SOX10, WDR35, RAB23, POR, MSX2, TWIST1, TGFBR1, TGFBR2, SKI, GLI3, IFT140, WDR19, ALX4 , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
20 %
Comprehensive Skeletal Dysplasias and Disorders Panel.

By Blueprint Genetics in Finland.

RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, LRP5, COL2A1, COL1A1, COL1A2, SOST, TGFB1, LEMD3, TNFRSF11A, PYCR1, CLCN7, ATP6V0A2, FBN1, SERPINF1, SP7 , (...)

View the complete list with 226 more genes
Specificity
1 %
Genes
20 %
Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel.

By Blueprint Genetics in Finland.

RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, BCS1L, IFITM5, LRP5, COL2A1, COL1A1, COL1A2, COL3A1, SOST, TGFB1, LEMD3, TNFRSF11A, PYCR1, CLCN7, ATP6V0A2 , (...)

View the complete list with 288 more genes
Specificity
1 %
Genes
20 %
Familial Thoracic Aortic Aneurysm NGS and Deletion/Duplication Panel.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

FBN1, TGFB2, SMAD3, TGFBR1, TGFBR2, SKI, MYLK, ACTA2, MYH11, SMAD6
Specificity
10 %
Genes
20 %
SKI Gene Sequencing and Deletion/Duplication Analysis.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

SKI
Specificity
100 %
Genes
20 %
SHPRINTZEN-GOLDBERG SYNDROME.

By Laboratorio de Genetica Clinica SL in Spain.

SKI
Specificity
100 %
Genes
20 %
Shprintzen-Goldberg Syndrome, Sequencing SKI Gene.

By Reference Laboratory Genetics in Spain.

SKI
Specificity
100 %
Genes
20 %
Tempus xO assay.

By Tempus Labs, Inc. in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, ABCB11, ABCB4, FKBP10, FOXL2, HNF1A, PPARG , (...)

View the complete list with 1693 more genes
Specificity
1 %
Genes
40 %
Shprintzen-Goldberg Syndrome: gene sequencing.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

SKI
Specificity
100 %
Genes
20 %
Epilepsy Advanced Sequencing and CNV Evaluation - Generalized, Absence, Focal,Febrile and Myoclonic Epilepsies.

By Athena Diagnostics Inc in United States.

ALPL, ADSL, SLC25A19, LIAS, ABAT, GAMT, GATM, SUCLA2, ALG9, GLDC, AMT, ALDH7A1, NDUFA1, L2HGDH, CYP27A1, SLC6A8, CHRNA7, PCDH19, SLC2A1, PHGDH , (...)

View the complete list with 64 more genes
Specificity
2 %
Genes
20 %
Epilepsy Advanced Sequencing and CNV Evaluation.

By Athena Diagnostics Inc in United States.

UBE3A, ALPL, ADSL, PAX6, CPT2, ATP6V0A2, HSD17B10, HPRT1, ADGRV1, SHH, POLG, SLC25A19, PANK2, MECP2, LIAS, ABAT, GAMT, GATM, STXBP1, SUCLA2 , (...)

View the complete list with 214 more genes
Specificity
1 %
Genes
20 %
NGS Epilepsy/Seizure Panel.

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

MTHFR, UBE3A, ADSL, SHH, POLG, SLC25A19, MECP2, LIAS, ABAT, GAMT, GATM, STXBP1, CTSD, SLC25A22, SLC9A6, ALDH7A1, NDUFA1, TPP1, CLN3, ARX , (...)

View the complete list with 125 more genes
Specificity
1 %
Genes
20 %
SCN1A, SCN1B, GABRG2, GABRD, SCN9A. NextGeneDx.Complete sequencing by NGS.

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

SCN1A, SCN9A, SCN1B, GABRD, GABRG2
Specificity
20 %
Genes
20 %
GABRD. Complete sequencing.

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

GABRD
Specificity
100 %
Genes
20 %
Epilepsy, idiopathic generalized type 10 (sequence analysis of GABRD gene).

By CGC Genetics in Portugal.

GABRD
Specificity
100 %
Genes
20 %
Epilepsy and Seizure Plus Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

UBE3A, PTEN, ADSL, POLG, MECP2, LIAS, DHDDS, ABAT, SLC25A12, GAMT, GATM, STXBP1, CTSD, SLC25A22, GCSH, GLDC, AMT, SLC9A6, ALDH5A1, ALDH7A1 , (...)

View the complete list with 202 more genes
Specificity
1 %
Genes
20 %
Juvenile Myoclonic Epilepsy (JME).

By MGZ Medical Genetics Center in Germany.

EFHC1, GABRD
Specificity
50 %
Genes
20 %
GABRD-Related Juvenile Myoclonic Epilepsy.

By MGZ Medical Genetics Center in Germany.

GABRD
Specificity
100 %
Genes
20 %
Neurogenetic Disorders - panels.

By MGZ Medical Genetics Center in Germany.

MTHFR, TTR, UBE3A, AARS2, ABHD12, ACAD9, ACADM, ACADS, AGL, ACADVL, YARS2, PC, UQCRQ, ARG1, UQCRB, ATP5F1E, ATP7B, ATPAF2, AUH, BCKDHA , (...)

View the complete list with 577 more genes
Specificity
1 %
Genes
20 %
Epileptic Encephalopathy.

By MGZ Medical Genetics Center in Germany.

UBE3A, AMACR, POLG, PANK2, MECP2, GAMT, STXBP1, SLC25A22, GLDC, HEXA, HEXB, ALDH7A1, TPP1, CLN3, ARX, CDKL5, FOXG1, MEF2C, NPC1, NPC2 , (...)

View the complete list with 69 more genes
Specificity
2 %
Genes
20 %
Progressive Myoclonic Epilepsy.

By MGZ Medical Genetics Center in Germany.

POLG, GLDC, HEXA, HEXB, TPP1, CLN3, NPC1, NPC2, CLN6, PPT1, CLN5, CSTB, SGCE, CASR, CACNB4, EFHC1, GOSR2, NHLRC1, KCTD7, PRICKLE1 , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
20 %
Epilepsy and Mitochondrial Encephalopathy.

By MGZ Medical Genetics Center in Germany.

UBE3A, YARS2, PC, UQCRQ, UQCRB, SDHAF2, OPA1, TRMU, WFS1, POLG, NDUFS4, SLC25A19, SLC25A4, FOXRED1, RRM2B, NDUFAF2, SDHC, PANK2, MECP2, MTO1 , (...)

View the complete list with 166 more genes
Specificity
1 %
Genes
20 %
Brain Malformations / Neuronal Migration Disorders.

By MGZ Medical Genetics Center in Germany.

FMR1, UBE3A, PTEN, APP, TUBB3, HSD17B10, HPRT1, PANK2, FH, MECP2, GAMT, STXBP1, TUBA1A, SLC25A22, GLDC, GK, MAOA, ACSL4, SLC9A6, ALDH7A1 , (...)

View the complete list with 246 more genes
Specificity
1 %
Genes
20 %
Febrile Seizures.

By MGZ Medical Genetics Center in Germany.

PCDH19, SCN1A, SCN1B, SCN2A, STX1B, GABRD, HCN1, GABRA1
Specificity
13 %
Genes
20 %
Epilepsy.

By MGZ Medical Genetics Center in Germany.

UBE3A, YARS2, PC, UQCRQ, UQCRB, SDHAF2, AMACR, OPA1, TRMU, WFS1, POLG, NDUFS4, SLC25A19, SLC25A4, FOXRED1, RRM2B, NDUFAF2, SDHC, PANK2, MECP2 , (...)

View the complete list with 192 more genes
Specificity
1 %
Genes
20 %
Febrile seizures / genetic epilepsy with febrile seizures plus (GEFS+) panel.

By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands.

ADGRV1, PCDH19, SCN1A, SCN9A, SCN1B, SCN2A, GABRD, GABRG2, TBC1D24, CLCN2
Specificity
10 %
Genes
20 %
IGE/JME/CAE panel.

By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands.

ME2, SLC2A1, CASR, CACNB4, CACNA1H, EFHC1, GABRB3, GABRD, GABRA1, CLCN2, BRD2
Specificity
10 %
Genes
20 %
Generalized epilepsy with febrile seizures plus type 5.

By Centogene AG - the Rare Disease Company in Germany.

GABRD
Specificity
100 %
Genes
20 %
Epilepsy, idiopathic generalized type 10.

By Centogene AG - the Rare Disease Company in Germany.

GABRD
Specificity
100 %
Genes
20 %
GABRD.

By Amplexa Genetics Amplexa Genetics A/S in Denmark.

GABRD
Specificity
100 %
Genes
20 %
Idiopathic Generalized and Focal Epilepsy Panel.

By CeGaT GmbH in Germany.

AMACR, ME2, ALDH7A1, SLC2A1, SCN1A, CACNA1A, CASR, KCNA1, CACNB4, SLC1A3, CACNA1H, CHRNB2, CPA6, EFHC1, LGI1, GABRB3, SCN9A, SCN1B, SCN2A, STX1B , (...)

View the complete list with 20 more genes
Specificity
3 %
Genes
20 %
Generalized epilepsy with febrile seizures plus.

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

SCN1A, SCN9A, SCN1B, SCN2A, GABRD, GABRG2
Specificity
17 %
Genes
20 %
Epilepsy.

By Asper Biogene Asper Biogene LLC in Estonia.

UBE3A, MCCC1, ADSL, TUBB3, POLG, MECP2, GAMT, GATM, STXBP1, SLC25A22, ALG3, SLC9A6, ALDH7A1, MOCS2, MOCS1, WWOX, SLC6A8, ARX, CDKL5, FOXG1 , (...)

View the complete list with 104 more genes
Specificity
1 %
Genes
20 %
Epilepsy, generalized with febrile seizures plus (GEFS+) 5.

By Praxis fuer Humangenetik Wien in Austria.

GABRD
Specificity
100 %
Genes
20 %
Epilepsy, idiopathic generalized, 10.

By Praxis fuer Humangenetik Wien in Austria.

GABRD
Specificity
100 %
Genes
20 %
Epilepsy, juvenile myoclonic 7.

By Praxis fuer Humangenetik Wien in Austria.

GABRD
Specificity
100 %
Genes
20 %
Epilepsy, generalized with febrile seizures plus (GEFS+) 5.

By MedGene in Slovakia.

GABRD
Specificity
100 %
Genes
20 %
Epilepsy, idiopathic generalized, 10.

By MedGene in Slovakia.

GABRD
Specificity
100 %
Genes
20 %
Epilepsy, juvenile myoclonic 7.

By MedGene in Slovakia.

GABRD
Specificity
100 %
Genes
20 %
DRAVET, SYNDROME & MIOCLONIC EPILEPSY.

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

CHRNA7, PCDH19, SCN1A, CACNB4, EFHC1, NHLRC1, SCN9A, SCN1B, SCN2A, GABRD, EPM2A, GABRA1, GABRG2
Specificity
8 %
Genes
20 %
EPILEPSY HEREDITARY PANEL.

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

STXBP1, ALDH7A1, ARX, CDKL5, PCDH19, SLC2A1, MT-ATP6, SCN1A, CACNA1A, KCNA1, CACNB4, ATP1A2, CACNA1H, CHRNB2, CPA6, EFHC1, LGI1, GABRB3, NHLRC1, SCN9A , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
20 %
Epilepsy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

MTHFR, UBE3A, PC, ARG1, BTD, ATPAF2, BCS1L, C12orf65, ADSL, PAX6, CPT2, PSAP, GNPTAB, GLB1, CC2D2A, PRODH, ATP6V0A2, GNE, HSD17B10, TMEM67 , (...)

View the complete list with 323 more genes
Specificity
1 %
Genes
20 %
GABRD.

By Fulgent Genetics Fulgent Genetics in United States.

GABRD
Specificity
100 %
Genes
20 %
Idiopathic Generalized Epilepsy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

UBE3A, ADSL, HSD17B10, ME2, MECP2, STXBP1, SLC9A6, ALDH7A1, ARX, CDKL5, FOXG1, MEF2C, PCDH19, PLP1, SLC2A1, SYNGAP1, SMC1A, GPC3, CSTB, SCN1A , (...)

View the complete list with 69 more genes
Specificity
2 %
Genes
20 %
Early-Onset Epileptic Encephalopathy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

UBE3A, AUH, ADSL, ADGRV1, POLG, MECP2, LIAS, SLC25A12, GAMT, GATM, STXBP1, CTSD, SLC25A22, SLC9A6, ALDH7A1, TPP1, CLN3, WWOX, FARS2, SLC6A8 , (...)

View the complete list with 113 more genes
Specificity
1 %
Genes
20 %
Comprehensive Epilepsy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

MTHFR, UBE3A, PC, ARG1, BTD, ATPAF2, AUH, BCS1L, TWNK, C12orf65, ADSL, PAX6, AMACR, CPT2, PSAP, GNPTAB, GLB1, CC2D2A, PRODH, ATP6V0A2 , (...)

View the complete list with 427 more genes
Specificity
1 %
Genes
40 %
Generalized Epilepsy with Febrile Seizures Plus (GEFS+) type V.

By Bioarray in Spain.

GABRD
Specificity
100 %
Genes
20 %
Familial Epilepsy and Related Disorders , Panel Massive Sequencing (NGS) 34 Genes.

By Reference Laboratory Genetics in Spain.

STXBP1, ALDH7A1, ARX, CDKL5, PCDH19, SLC2A1, SCN1A, CACNA1A, KCNA1, CACNB4, ATP1A2, CACNA1H, CHRNB2, CPA6, EFHC1, LGI1, GABRB3, NHLRC1, SCN9A, SCN1B , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
20 %
Generalized Epilepsy with Febrile Seizures Plus, Panel Massive Sequencing (NGS) 5 Genes.

By Reference Laboratory Genetics in Spain.

SCN1A, SCN9A, SCN1B, GABRD, GABRG2
Specificity
20 %
Genes
20 %
Neuromuscular Channelopathies , Panel Massive Sequencing (NGS) 44 Genes.

By Reference Laboratory Genetics in Spain.

GAA, STXBP1, SLC25A22, GBE1, ARX, CDKL5, DMPK, PCDH19, CHRNE, SCN1A, CLCN1, SCN4A, CACNA1A, ATP2A1, CACNA1S, RYR1, CHRNA1, CHRND, CHRNB1, CHRNB2 , (...)

View the complete list with 24 more genes
Specificity
3 %
Genes
20 %
KCNAB2.

By Fulgent Genetics Fulgent Genetics in United States.

KCNAB2
Specificity
100 %
Genes
20 %
Comprehensive Cardiac Panel.

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

TTR, AGL, ACADVL, GAA, DSP, CRYAB, RAF1, MTO1, TMEM70, TAZ, SLC22A5, ALMS1, DOLK, BRAF, DMD, GLA, HRAS, KRAS, MAP2K1, NRAS , (...)

View the complete list with 87 more genes
Specificity
1 %
Genes
20 %
Dilated & Arrhythmogenic Cardiomyopathies Panel.

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

TTR, DSP, CRYAB, RAF1, TAZ, DOLK, DMD, GLA, PTPN11, LMNA, TTN, DES, MYH7, LDB3, BAG3, MYBPC3, TMEM43, EMD, TCAP, SGCD , (...)

View the complete list with 31 more genes
Specificity
2 %
Genes
20 %
PRDM16.

By Institute for Human Genetics University Clinic Freiburg in Germany.

PRDM16
Specificity
100 %
Genes
20 %
DCM/Arrhythmogenic Cardiomyopathy Panel (53 Genes).

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

TTR, DSP, CRYAB, RAF1, TAZ, DOLK, DMD, GLA, PTPN11, LMNA, TTN, DES, MYH7, LDB3, BAG3, MYBPC3, TMEM43, EMD, TCAP, SGCD , (...)

View the complete list with 33 more genes
Specificity
2 %
Genes
20 %
Pan Cardiomyopathy Panel (62 Genes).

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

TTR, DSP, CRYAB, RAF1, TAZ, DOLK, DMD, GLA, PTPN11, LMNA, CAV3, TTN, DES, MYH7, LDB3, BAG3, MYBPC3, TMEM43, EMD, TCAP , (...)

View the complete list with 41 more genes
Specificity
2 %
Genes
20 %
Cardiomyopathy NGS Multi-Gene Panel (50 genes), Sequence & CNV analysis.

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

TTR, DSP, CRYAB, TAZ, GLA, LMNA, CAV3, TTN, DES, MYH7, LDB3, BAG3, FHL1, MYBPC3, TMEM43, EMD, TCAP, SGCD, HCN4, SCN5A , (...)

View the complete list with 31 more genes
Specificity
2 %
Genes
20 %
Comprehensive Cardiology Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

HFE, TTR, GAA, COL3A1, ELN, EYA4, JAG1, DSP, SLC25A4, CRYAB, HADHA, RAF1, FBN1, GCKR, DNAJC19, SCO2, TAZ, COX15, CBS, ALMS1 , (...)

View the complete list with 144 more genes
Specificity
1 %
Genes
20 %
Dilated Cardiomyopathy Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

TTR, EYA4, DSP, CRYAB, RAF1, TAZ, DMD, FKTN, LMNA, CAV3, TTN, DES, MYH7, LDB3, BAG3, MYBPC3, EMD, TCAP, SGCD, SCN5A , (...)

View the complete list with 27 more genes
Specificity
3 %
Genes
20 %
Pan Cardiomyopathy Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

TTR, GAA, EYA4, DSP, CRYAB, RAF1, SCO2, TAZ, ALMS1, DOLK, BRAF, DMD, GLA, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SOS1, MAP2K2 , (...)

View the complete list with 62 more genes
Specificity
2 %
Genes
20 %
Cardiomyopathy, dilated type 1LL.

By Centogene AG - the Rare Disease Company in Germany.

PRDM16
Specificity
100 %
Genes
20 %
Left Ventricular Noncompaction Cardiomyopathy (LVNC) Panel.

By CeGaT GmbH in Germany.

TAZ, LMNA, MYH7, LDB3, MYBPC3, ACTC1, PRDM16, TPM1, TNNT2, DTNA, MIB1
Specificity
10 %
Genes
20 %
Left Ventricular Non-Compactation Panel.

By Health in Code in Spain.

DSP, DNAJC19, TAZ, MLYCD, DMD, PTPN11, LMNA, TTN, MYH7, FLNC, LDB3, BAG3, FHL1, MYBPC3, KCNH2, HCN4, KCNQ1, NOTCH1, RYR2, CASQ2 , (...)

View the complete list with 16 more genes
Specificity
3 %
Genes
20 %
Dilated Cardiomyopathy Panel.

By Health in Code in Spain.

HFE, TTR, GAA, PSEN1, EYA4, GLB1, DSP, CRYAB, RAF1, DNAJC19, TAZ, SLC22A5, ALMS1, DOLK, BRAF, DMD, GLA, PTPN11, FKTN, SGCA , (...)

View the complete list with 61 more genes
Specificity
2 %
Genes
20 %
Cardiomyopathies Panel.

By Health in Code in Spain.

HFE, TTR, AARS2, ACAD9, AGL, ACADVL, ATPAF2, GAA, PSEN1, ELN, EYA4, GNPTAB, GLB1, PITX2, JAG1, DSP, DLD, SLC25A4, CRYAB, RAF1 , (...)

View the complete list with 129 more genes
Specificity
1 %
Genes
20 %
Non-compaction cardiomyopathy.

By Health in Code in Spain.

DSP, DNAJC19, TAZ, MLYCD, DMD, PTPN11, LMNA, TTN, MYH7, FLNC, LDB3, BAG3, FHL1, MYBPC3, KCNH2, HCN4, KCNQ1, NOTCH1, RYR2, CASQ2 , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
20 %
Arrhythmia General Panel.

By Health in Code in Spain.

HFE, TTR, AARS2, ACAD9, AGL, ACADVL, ATP5F1E, ATPAF2, GAA, ELAC2, PSEN1, EYA4, GNPTAB, GLB1, PITX2, DSP, DLD, SLC25A4, FOXRED1, CRYAB , (...)

View the complete list with 198 more genes
Specificity
1 %
Genes
20 %
Cardiomyopathies General Panel.

By Health in Code in Spain.

HFE, TTR, AARS2, ACAD9, AGL, ACADVL, ATP5F1E, ATPAF2, GAA, ELAC2, PSEN1, EYA4, GNPTAB, GLB1, DSP, DLD, SLC25A4, FOXRED1, CRYAB, RAF1 , (...)

View the complete list with 153 more genes
Specificity
1 %
Genes
20 %
Dilated Cardiomyopathy: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

TTR, DSP, CRYAB, TAZ, DMD, FKTN, LMNA, TTN, DES, MYH7, LDB3, BAG3, MYBPC3, EMD, TCAP, SGCD, SCN5A, LAMP2, ABCC9, PDLIM3 , (...)

View the complete list with 19 more genes
Specificity
3 %
Genes
20 %
Cardiomyopathy: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

TTR, GAA, DSP, CRYAB, RAF1, TAZ, SLC22A5, BRAF, DMD, GLA, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SOS1, RIT1, MAP2K2, FKTN, LMNA , (...)

View the complete list with 45 more genes
Specificity
2 %
Genes
20 %
PRDM16.

By Fulgent Genetics Fulgent Genetics in United States.

PRDM16
Specificity
100 %
Genes
20 %
Cardiomyopathy Panel.

By Blueprint Genetics in Finland.

HFE, TTR, AARS2, ACAD9, AGL, ACADVL, GAA, ELAC2, CPT2, GLB1, TRIM32, DSP, SLC25A4, FOXRED1, NDUFAF2, CRYAB, HADHA, RAF1, VCP, MTO1 , (...)

View the complete list with 135 more genes
Specificity
1 %
Genes
20 %
Comprehensive Cardiology Panel.

By Blueprint Genetics in Finland.

HFE, TTR, AARS2, ACAD9, AGL, ACADVL, GAA, ELAC2, CPT2, GLB1, TRIM32, DSP, SLC25A4, FOXRED1, NDUFAF2, CRYAB, HADHA, RAF1, VCP, MTO1 , (...)

View the complete list with 165 more genes
Specificity
1 %
Genes
20 %
Dilated Cardiomyopathy (DCM) Panel.

By Blueprint Genetics in Finland.

TTR, GLB1, DSP, RAF1, PCCB, PCCA, TAZ, MLYCD, GBE1, ETFB, ETFA, ETFDH, ALMS1, DOLK, DMD, FKTN, LMNA, DYSF, TTN, DES , (...)

View the complete list with 50 more genes
Specificity
2 %
Genes
20 %
Cardiomyopathy Exome Panel.

By Northwest Clinical Genomics Laboratory University of Washington in United States.

TTR, GAA, PSEN1, DSP, CRYAB, RAF1, TAZ, DOLK, BRAF, DMD, GLA, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1, RIT1, MAP2K2 , (...)

View the complete list with 55 more genes
Specificity
2 %
Genes
20 %
Caris MI TumorSeek 592-Gene NGS Panel.

By Caris Life Sciences in United States.

BRCA1, BRCA2, VHL, APC, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, FOXL2, HNF1A, PPARG, COL1A1, WT1, RB1, SDHAF2 , (...)

View the complete list with 571 more genes
Specificity
1 %
Genes
20 %
FAMILIAL DILATED CARDIOMYOPATHY/HYPERTROPHIC/NONCOMPACTION: NGS PANEL.

By Laboratorio de Genetica Clinica SL in Spain.

PSEN1, EYA4, DSP, CRYAB, RAF1, MRPL3, TAZ, DMD, FKTN, LMNA, PSEN2, TTN, DES, MYH7, FLNC, LDB3, BAG3, MYBPC3, TCAP, SGCD , (...)

View the complete list with 33 more genes
Specificity
2 %
Genes
20 %

Alternate names

Chromosome 1p36 Deletion Syndrome Is also known as monosomy 1p36 syndrome;del(1)(p36); deletion 1p36; deletion 1pter; monosomy 1p36; monosomy 1pter; subtelomeric 1p36 deletion.



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