Cri-du-chat Syndrome

Description

Cri-du-chat syndrome was first described by Lejeune et al. (1963) as a hereditary congenital syndrome associated with deletion of part of the short arm of chromosome 5. The deletions can vary in size from extremely small and involving only band 5p15.2 to the entire short arm. Although the majority of deletions arise as new mutations, approximately 12% result from unbalanced segregation of translocations or recombination involving a pericentric inversion in one of the parents.

Clinical Features

Top most frequent phenotypes and symptoms related to Cri-du-chat Syndrome

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Pica
  • Hearing impairment
  • Microcephaly
  • Scoliosis
  • Hypertelorism
  • Growth delay
  • Micrognathia
And another 78 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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Cri-du-chat Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Autism Spectrum Disorders Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

FMR1, UBE3A, PTEN, ADSL, MFRP, NDP, MECP2, GAMT, GATM, STXBP1, MAOA, SLC9A6, SGSH, ARX, BRAF, CDKL5, CHD7, DHCR7, FOXG1, KRAS , (...)

View the complete list with 87 more genes
Specificity
1 %
Genes
50 %
Autism Spectrum Disorders Panel.

By Blueprint Genetics in Finland.

PTEN, MECP2, GAMT, DHCR7, TSC2, TSC1, NSD1, SHANK3, PTCHD1, ADNP, FOXP1, CACNA1C, NLGN4X, NLGN3, RPL10, CC2D1A, POGZ, BCL11A, TRIP12, CTNND2 , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
50 %
Comprehensive Pulmonary Panel.

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

INVS, FBLN5, ELN, DTNBP1, RPGR, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, CCDC39, AP3B1, ALMS1, STAT3, CFTR, FOXF1, TINF2, TSC2, TSC1 , (...)

View the complete list with 73 more genes
Specificity
2 %
Genes
50 %
Hermansky-Pudlak and Pulmonary Fibrosis Panel.

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

DTNBP1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, AP3B1, TINF2, RTEL1, DKC1, BLOC1S6, TERC, ELMOD2, TERT, SFTPD, PARN, CSF2RA, MUC5B, NKX2-1 , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
50 %
Diffuse Lung Disease NGS Panel.

By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital in United States.

HPS1, HPS4, AP3B1, FOXF1, TINF2, SLC7A7, DKC1, TERC, TERT, CSF2RA, CSF2RB, NKX2-1, ABCA3, SFTPC, SFTPB, SFTPA2
Specificity
7 %
Genes
50 %
Telomere Shortening Disorders Spectrum NGS Panel.

By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital in United States.

TINF2, DKC1, TERC, TERT, CTC1, WRAP53, NHP2, NOP10
Specificity
13 %
Genes
50 %
Idiopathic Pulmonary Fibrosis NGS Panel.

By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital in United States.

HPS1, HPS4, AP3B1, TINF2, DKC1, TERC, TERT, NKX2-1, ABCA3, SFTPC, SFTPA2
Specificity
10 %
Genes
50 %
Bone Marrow Failure.

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

BRCA2, RPL35A, FANCC, RPS19, TINF2, NBN, PALB2, BRIP1, SBDS, PRF1, RAD51C, MPL, GATA1, RPS26, RPS10, RPL11, RPL5, RPS24, FANCB, DKC1 , (...)

View the complete list with 23 more genes
Specificity
3 %
Genes
50 %
Bone Marrow Failure Syndromes Panel by next-generation sequencing (NGS).

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

BRCA2, SLC37A4, RPL35A, HAX1, AP3B1, TAZ, FANCC, RMRP, RPS19, TINF2, PALB2, BRIP1, GATA2, SBDS, RAD51C, MPL, RTEL1, WAS, VPS13B, GATA1 , (...)

View the complete list with 39 more genes
Specificity
2 %
Genes
50 %
Dyskeratosis Congenita panel by next-generation sequencing (NGS).

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

TINF2, RTEL1, DKC1, TERC, TERT, WRAP53, NHP2, NOP10
Specificity
13 %
Genes
50 %
TERT Sequencing.

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

TERT
Specificity
100 %
Genes
50 %
Bone Marrow Failure Syndromes Deletion/Duplication Panel.

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

BRCA2, SLC37A4, RPL35A, HAX1, AP3B1, TAZ, FANCC, RMRP, RPS19, TINF2, PALB2, BRIP1, GATA2, RAD51C, MPL, RTEL1, WAS, VPS13B, GATA1, RPS26 , (...)

View the complete list with 35 more genes
Specificity
2 %
Genes
50 %
Dyskeratosis Congenita Deletion/Duplication Panel.

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

TINF2, RTEL1, DKC1, TERC, TERT, WRAP53, NHP2, NOP10
Specificity
13 %
Genes
50 %
TERT Deletion/duplication analysis.

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

TERT
Specificity
100 %
Genes
50 %
Inherited Bone Marrow Failure Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

BRCA2, RUNX1, ALAS2, RPL35A, HAX1, FANCC, RPS19, TINF2, PALB2, BRIP1, GATA2, SBDS, RAD51C, MPL, RTEL1, WAS, SBF2, GATA1, RPS26, RPS10 , (...)

View the complete list with 41 more genes
Specificity
2 %
Genes
50 %
Comprehensive Telomere Biology Disorder/Dyskeratosis Congenita Panel.

By Genetic Services Laboratory University of Chicago in United States.

TINF2, RTEL1, DKC1, TERC, TERT, PARN, CTC1, WRAP53, NHP2, NOP10, USB1, ACD, POT1, NAF1
Specificity
8 %
Genes
50 %
Thrombocytopenia Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

CYCS, ANKRD26, GATA2, MPL, WAS, FLNA, MYH9, GATA1, TERC, TERT, VWF, CFB, CFI, CFH, CFHR5, CD46, C3, THBD, CFHR1, CFHR3 , (...)

View the complete list with 23 more genes
Specificity
3 %
Genes
50 %
Comprehensive Hereditary Cancer Panel.

By Genetic Services Laboratory University of Chicago in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RUNX1, TP53, SDHAF2, RET, SDHC, FH, SDHB, ANKRD26, TMEM127 , (...)

View the complete list with 34 more genes
Specificity
2 %
Genes
50 %
Hereditary Leukemia and Breast Cancer Panel.

By Genetic Services Laboratory University of Chicago in United States.

BRCA1, BRCA2, MSH2, PMS2, MSH6, MLH1, PTEN, RUNX1, TP53, ANKRD26, BLM, PTPN11, CBL, ATM, NBN, PALB2, CDH1, CHEK2, GATA2, PAX5 , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
50 %
Tier 1: Familial Myelodysplastic Syndrome/Acute Leukemia (MDS/AL).

By Genetic Services Laboratory University of Chicago in United States.

RUNX1, TP53, ANKRD26, GATA2, PAX5, CEBPA, RTEL1, TERC, TERT, SRP72, IKZF1, ETV6, SAMD9, SAMD9L, DDX41
Specificity
7 %
Genes
50 %
Thrombocytopenia Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago in United States.

RUNX1, CYCS, ANKRD26, GATA2, MPL, WAS, FLNA, MYH9, GATA1, TERC, TERT, VWF, CFB, CFI, CFH, CFHR5, CD46, C3, THBD, CFHR1 , (...)

View the complete list with 23 more genes
Specificity
3 %
Genes
50 %
Hereditary Myeloid Malignancy and Inherited Bone Marrow Failure Panel.

By Genetic Services Laboratory University of Chicago in United States.

BRCA1, BRCA2, MSH2, PMS2, MSH6, MLH1, RUNX1, TP53, ALAS2, RPL35A, HAX1, ANKRD26, FANCC, BLM, PTPN11, RPS19, TINF2, CBL, ATM, NBN , (...)

View the complete list with 59 more genes
Specificity
2 %
Genes
50 %
Basic Fibrosis Panel (12 Genes).

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

TERC, ELMOD2, TERT, SFTPD, CSF2RA, MUC5B, NKX2-1, ABCA3, SFTPC, SFTPB, SFTPA2, SFTPA1
Specificity
9 %
Genes
50 %
PulmoGene Panel (64 Genes).

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

FBLN5, RET, ELN, DTNBP1, RPGR, FBN1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, CCDC39, AP3B1, STAT3, CFTR, FOXF1, HRAS, TSC2, TSC1 , (...)

View the complete list with 44 more genes
Specificity
2 %
Genes
50 %
Pulmonary Fibrosis - Hermansky Pudlak Panel (21 Genes).

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

DTNBP1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, AP3B1, BLOC1S6, TERC, ELMOD2, TERT, SFTPD, CSF2RA, MUC5B, NKX2-1, ABCA3, SFTPC, SFTPB, SFTPA2 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
50 %
TERT/TERC gene sequence and deletion/duplication.

By Ambry Genetics in United States.

TERC, TERT
Specificity
50 %
Genes
50 %
DCNext.

By Ambry Genetics in United States.

TINF2, DKC1, TERC, TERT, WRAP53, NHP2, NOP10
Specificity
15 %
Genes
50 %
TERT. Complete sequencing.

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

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

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

TERT
Specificity
100 %
Genes
50 %
Hereditary Melanoma Panel.

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

BRCA1, BRCA2, PTEN, TP53, RB1, CDK4, CDKN2A, TERT, BAP1, WRN
Specificity
10 %
Genes
50 %
Neonatal Respiratory Distress Del/Dup Panel.

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

JAG1, FOXF1, GATA2, SLC7A7, FLNA, DKC1, MARS, TERC, TERT, CSF2RA, CSF2RB, NKX2-1, ABCA3, SFTPB, NOTCH2, COPA
Specificity
7 %
Genes
50 %
Neonatal Respiratory Distress Seq + Del/ Dup Panel.

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

JAG1, FOXF1, GATA2, SLC7A7, FLNA, DKC1, MARS, TERC, TERT, CSF2RA, CSF2RB, NKX2-1, ABCA3, SFTPB, NOTCH2, COPA
Specificity
7 %
Genes
50 %
Neonatal Respiratory Distress Seq Analysis.

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

JAG1, FOXF1, GATA2, SLC7A7, FLNA, DKC1, MARS, TERC, TERT, CSF2RA, CSF2RB, NKX2-1, ABCA3, SFTPB, NOTCH2, COPA
Specificity
7 %
Genes
50 %
Comprehensive Pulmonary-Vascular Seq Analysis.

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

INVS, JAG1, RPGR, CCDC39, CFTR, FOXF1, SMAD4, GATA2, ENG, SLC7A7, FLNA, OFD1, RASA1, DKC1, MARS, TERC, ACVRL1, BMPR1B, DNAH8, DNAH1 , (...)

View the complete list with 45 more genes
Specificity
2 %
Genes
50 %
Comprehensive Pulmonary-Vascular Del/Dup Panel.

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

INVS, JAG1, RPGR, CCDC39, CFTR, FOXF1, SMAD4, GATA2, ENG, SLC7A7, FLNA, OFD1, RASA1, DKC1, MARS, TERC, ACVRL1, BMPR1B, DNAH8, DNAH1 , (...)

View the complete list with 44 more genes
Specificity
2 %
Genes
50 %
Comprehensive Pulmonary-Vascular Seq + Del/Dup Panel.

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

INVS, JAG1, RPGR, CCDC39, CFTR, FOXF1, SMAD4, GATA2, ENG, SLC7A7, FLNA, OFD1, RASA1, DKC1, MARS, TERC, ACVRL1, BMPR1B, DNAH8, DNAH1 , (...)

View the complete list with 44 more genes
Specificity
2 %
Genes
50 %
Dyskeratosis congenita (sequence analysis of TERT gene).

By CGC Genetics in Portugal.

TERT
Specificity
100 %
Genes
50 %
Dyskeratosis congenita (NGS panel for 8 genes).

By CGC Genetics in Portugal.

TINF2, RTEL1, DKC1, TERC, TERT, WRAP53, NHP2, NOP10
Specificity
13 %
Genes
50 %
Pulmonary fibrosis and/or bone marrow failure (sequence analysis of TERT gene).

By CGC Genetics in Portugal.

TERT
Specificity
100 %
Genes
50 %
Pulmonary fibrosis and/or bone marrow failure (sequence analysis of TERT gene).

By CGC Genetics in Portugal.

TERT
Specificity
100 %
Genes
50 %
Dyskeratosis Congenita (DC) and Related Disorders Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

TINF2, DKC1, TERC, TERT, CTC1, WRAP53, NHP2, NOP10
Specificity
13 %
Genes
50 %
Hereditary Myelodysplastic Syndrome (MDS) /Acute Myeloid Leukemia (AML) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

RUNX1, TP53, ANKRD26, GATA2, CEBPA, TERC, TERT, SRP72, ETV6, SAMD9L, DDX41
Specificity
10 %
Genes
50 %
Dyskeratosis Congenita (DC) via TERT Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

TERT
Specificity
100 %
Genes
50 %
Pulmonary Fibrosis and Surfactant Dysfunction Disorders Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

TERC, ELMOD2, TERT, SFTPD, CSF2RB, NKX2-1, ABCA3, SFTPC, SFTPB, SFTPA2
Specificity
10 %
Genes
50 %
Interstitial Lung Disease Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

SMPD1, HPS1, HPS4, STAT3, CFTR, TINF2, TSC2, TSC1, FLCN, SLC7A7, RTEL1, NF1, DKC1, TERC, TERT, PARN, CSF2RB, NKX2-1, ABCA3, SFTPC , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
50 %
Dyskeratosis congenita NGS panel.

By Connective Tissue Gene Tests in United States.

TINF2, RTEL1, DKC1, TERC, TERT, PARN, CTC1, WRAP53, NHP2, NOP10, USB1, ACD
Specificity
9 %
Genes
50 %
Dyskeratosis congenita Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

TINF2, RTEL1, DKC1, TERC, TERT, PARN, CTC1, WRAP53, NHP2, NOP10, USB1, ACD
Specificity
9 %
Genes
50 %
Dyskeratosis congenita Comprehensive panel.

By Connective Tissue Gene Tests in United States.

TINF2, RTEL1, DKC1, TERC, TERT, PARN, CTC1, WRAP53, NHP2, NOP10, USB1, ACD
Specificity
9 %
Genes
50 %
Aplastic anemia.

By Centogene AG - the Rare Disease Company in Germany.

TERT
Specificity
100 %
Genes
50 %
Dyskeratosis congenita, AD type 1.

By Centogene AG - the Rare Disease Company in Germany.

TERT
Specificity
100 %
Genes
50 %
Comprehensive pulmonary disease panel.

By Centogene AG - the Rare Disease Company in Germany.

FBLN5, RET, ELN, DTNBP1, FBN1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, CCDC39, AP3B1, STAT3, CFTR, FOXF1, TINF2, TSC2, TSC1, PHOX2B , (...)

View the complete list with 46 more genes
Specificity
2 %
Genes
50 %
Disorders associated with malignancy Panel.

By CeGaT GmbH in Germany.

MSH2, PMS2, MSH6, MLH1, PTEN, RECQL4, SDHB, BLM, TINF2, TSC2, TSC1, ATM, PTCH1, NF2, STK11, SDHD, FLCN, PRKAR1A, RTEL1, NF1 , (...)

View the complete list with 25 more genes
Specificity
3 %
Genes
50 %
Dyskeratosis congenita Panel.

By CeGaT GmbH in Germany.

TINF2, RTEL1, DKC1, TERC, TERT, CTC1, WRAP53, NHP2, NOP10, USB1
Specificity
10 %
Genes
50 %
Bone marrow failure syndromes Panel.

By CeGaT GmbH in Germany.

BRCA2, FANCC, TINF2, MRE11, NBN, PALB2, BRIP1, SBDS, PRF1, RAD51C, RTEL1, WAS, FANCB, DKC1, LYST, TERC, TERT, CSF2RA, CTC1, WRAP53 , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
50 %
Syndromes with immunodeficiency Panel.

By CeGaT GmbH in Germany.

PMS2, STAT3, BLM, RMRP, RUNX2, TINF2, FGFR2, ATM, MRE11, NBN, WAS, SAMHD1, RNASEH2A, RNASEH2C, RNASEH2B, TREX1, TBX1, NLRP3, DKC1, TERC , (...)

View the complete list with 18 more genes
Specificity
3 %
Genes
50 %
Defects of phagocytosis Panel.

By CeGaT GmbH in Germany.

HFE, STAT1, SLC37A4, DTNBP1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, HAX1, AP3B1, TAZ, TCN2, SLC35C1, TCIRG1, CYBA, GATA2, SBDS, CYBB , (...)

View the complete list with 39 more genes
Specificity
2 %
Genes
50 %
Invitae Multi-Cancer Panel.

By Invitae in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, WT1, RB1, SDHAF2, RET, SDHC, FH , (...)

View the complete list with 60 more genes
Specificity
2 %
Genes
50 %
Invitae Dyskeratosis Congenita Panel.

By Invitae in United States.

TINF2, DKC1, TERC, TERT, CTC1, NHP2, NOP10
Specificity
15 %
Genes
50 %
Invitae Bone Marrow Failure Syndromes Panel.

By Invitae in United States.

BRCA2, RUNX1, RPL35A, FANCC, RPS19, TINF2, PALB2, BRIP1, GATA2, RAD51C, MPL, WAS, GATA1, RPS26, RPS10, RPL11, RPL5, RPS24, FANCB, DKC1 , (...)

View the complete list with 19 more genes
Specificity
3 %
Genes
50 %
Invitae Pediatric Hematologic Malignancies Panel.

By Invitae in United States.

EPCAM, MSH2, PMS2, MSH6, MLH1, RUNX1, TP53, BLM, HRAS, ATM, NBN, GATA2, CEBPA, NF1, TERC, TERT
Specificity
7 %
Genes
50 %
Invitae Myelodysplastic Syndrome/Leukemia Panel.

By Invitae in United States.

EPCAM, MSH2, PMS2, MSH6, MLH1, RUNX1, TP53, BLM, HRAS, ATM, NBN, GATA2, CEBPA, NF1, TERC, TERT
Specificity
7 %
Genes
50 %
Invitae Primary Immunodeficiency Panel.

By Invitae in United States.

PMS2, STAT1, SLC37A4, CASP8, TLR3, HAX1, AP3B1, UNG, TAP1, TAZ, TCN2, AK2, SLC35C1, CYBA, STAT3, ADA, MOGS, IL2RG, PNP, AIRE , (...)

View the complete list with 187 more genes
Specificity
1 %
Genes
50 %
Invitae Syndromic Combined Immunodeficiency (CID) Panel.

By Invitae in United States.

PMS2, TCN2, STAT3, PNP, CHD7, RMRP, TINF2, ATM, NBN, RTEL1, WAS, TBX1, SEMA3E, DKC1, TERC, TERT, PARN, CTC1, NHP2, NOP10 , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
50 %
Pulmonary fibrosis, idiopathic: TERT gene sequence analysis.

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

TERT
Specificity
100 %
Genes
50 %
ONCOLOGY, PANEL.

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

BRCA1, BRCA2, VHL, APC, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, WT1, RB1, SDHAF2, RET, KIF1B, SDHC, FH, SDHB, TMEM127 , (...)

View the complete list with 60 more genes
Specificity
2 %
Genes
50 %
Pulmonary fibrosis, idiopathic, and Surfactant protein deficiency.

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

TERC, TERT, SFTPD, CSF2RA, CSF2RB, MUC5B, ABCA3, SFTPC, SFTPB, SFTPA2, DMBT1, FOXA2, FOXA1
Specificity
8 %
Genes
50 %
Pulmonary Disease: Comprehensive Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

FBLN5, RET, ELN, DTNBP1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, CCDC39, AP3B1, STAT3, CFTR, TSC2, TSC1, PHOX2B, FLCN, ENG, SERPINA1 , (...)

View the complete list with 33 more genes
Specificity
2 %
Genes
50 %
Pulmonary Fibrosis and Hermansky-Pudlak Syndrome: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

DTNBP1, HPS1, BLOC1S3, HPS6, HPS4, HPS3, AP3B1, BLOC1S6, ELMOD2, TERT, SFTPD, CSF2RA, MUC5B, ABCA3, SFTPC, SFTPB, SFTPA1
Specificity
6 %
Genes
50 %
Interstitial Lung Disease: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

TERT, CSF2RA, CSF2RB, ABCA3, SFTPC, SFTPB, NKX1-1
Specificity
15 %
Genes
50 %
Interstitial Lung Disease: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

TERT, CSF2RA, ABCA3, SFTPC, SFTPB
Specificity
20 %
Genes
50 %
Melanoma NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

BRCA1, BRCA2, PTEN, TP53, RB1, MC1R, TYR, CDK4, CDKN2A, ERCC3, MITF, TERT, WRN
Specificity
8 %
Genes
50 %
Dyskeratosis Congenita NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

TINF2, DKC1, TERC, TERT, CTC1, WRAP53, NHP2, NOP10
Specificity
13 %
Genes
50 %
Hereditary Cancer NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, TP53, WT1, RB1, SDHAF2, RET, MC1R, TYR, KIF1B , (...)

View the complete list with 92 more genes
Specificity
1 %
Genes
50 %
Lung Disorders NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

FBLN5, RET, ELN, DTNBP1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, CCDC39, AP3B1, CFTR, TSC2, TSC1, PHOX2B, FLCN, ENG, SERPINA1, SCNN1A , (...)

View the complete list with 31 more genes
Specificity
2 %
Genes
50 %
TERT.

By Fulgent Genetics Fulgent Genetics in United States.

TERT
Specificity
100 %
Genes
50 %
Hematologic Malignancy Comprehensive Panel.

By Fulgent Genetics Fulgent Genetics in United States.

EPCAM, MSH2, PMS2, MSH6, MLH1, RUNX1, TP53, BLM, HRAS, ATM, NBN, GATA2, CEBPA, NF1, TERC, TERT
Specificity
7 %
Genes
50 %
Comprehensive Cancer Panel.

By Fulgent Genetics Fulgent Genetics in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, WT1, RB1, SDHAF2, RET, MC1R, TYR , (...)

View the complete list with 104 more genes
Specificity
1 %
Genes
50 %
Onco microarray for MDS/AML.

By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center in United States.

RUNX1, TP53, WT1, IDH2, KRAS, NRAS, PTPN11, CBL, ALK, GATA2, NF1, FUS, GATA1, DNMT3A, EZH2, TFG, TERT, KMT2A, KIT, ASXL1 , (...)

View the complete list with 40 more genes
Specificity
2 %
Genes
50 %
Hemato-oncology chromosomal microarray.

By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center in United States.

BRCA1, BRCA2, APC, MSH2, MLH1, TP53, COL1A1, RB1, BLM, BRAF, HRAS, ALK, PTCH1, PHOX2B, SUFU, CDH1, FUS, SETD2, KDM5C, PAX3 , (...)

View the complete list with 72 more genes
Specificity
2 %
Genes
50 %
Primary Immunodeficiency Panel.

By Blueprint Genetics in Finland.

PMS2, RECQL4, STAT1, SLC37A4, CASP8, CLCN7, HAX1, AP3B1, UNG, TAP1, TCN2, AK2, SLC35C1, CYBA, STAT3, ADA, MOGS, IL2RG, PNP, AIRE , (...)

View the complete list with 255 more genes
Specificity
1 %
Genes
50 %
Dyskeratosis Congenita Panel.

By Blueprint Genetics in Finland.

AK2, TINF2, RTEL1, DKC1, TERC, TERT, PARN, CTC1, WRAP53, NHP2, NOP10, USB1, DCLRE1B
Specificity
8 %
Genes
50 %
Hereditary Leukemia Panel.

By Blueprint Genetics in Finland.

BRCA1, BRCA2, EPCAM, MSH2, PMS2, MSH6, MLH1, RUNX1, TP53, ANKRD26, BLM, BRAF, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SOS1, TINF2, RIT1 , (...)

View the complete list with 19 more genes
Specificity
3 %
Genes
50 %
Comprehensive Hereditary Cancer Panel.

By Blueprint Genetics in Finland.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, HNF1A, WT1, SDHAF2, RET, SDHC, RAF1 , (...)

View the complete list with 126 more genes
Specificity
1 %
Genes
50 %
Comprehensive Hematology Panel.

By Blueprint Genetics in Finland.

BRCA1, BRCA2, F2, F5, HFE, EPCAM, MSH2, PMS2, MSH6, MLH1, RECQL4, RUNX1, TP53, YARS2, PC, HBB, TYRP1, OCA2, AMN, SLC45A2 , (...)

View the complete list with 219 more genes
Specificity
1 %
Genes
50 %
Hermansky-Pudlak Syndrome Panel.

By Blueprint Genetics in Finland.

TYRP1, OCA2, SLC45A2, TYR, GPR143, DTNBP1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, AP3B1, TINF2, DKC1, BLOC1S6, LYST, TERC, TERT, ABCA3 , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
50 %
Bone Marrow Failure Syndrome Panel.

By Blueprint Genetics in Finland.

BRCA1, BRCA2, EPCAM, MSH2, PMS2, MSH6, MLH1, RECQL4, RUNX1, TP53, SLC37A4, DTNBP1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, RPL35A, HAX1 , (...)

View the complete list with 102 more genes
Specificity
1 %
Genes
50 %
Comprehensive Pulmonology Panel.

By Blueprint Genetics in Finland.

FBLN5, RET, ELN, SMPD1, MECP2, HPS1, HPS4, CCDC39, CHAT, STAT3, CFTR, FOXF1, TINF2, TSC2, TSC1, PHOX2B, FLCN, CHRNE, SERPINA1, SLC7A7 , (...)

View the complete list with 46 more genes
Specificity
2 %
Genes
50 %
Interstitial Lung Disease Panel.

By Blueprint Genetics in Finland.

SMPD1, HPS1, HPS4, STAT3, TINF2, TSC2, TSC1, SLC7A7, RTEL1, NF1, DKC1, TERC, ELMOD2, TERT, PARN, CSF2RA, CSF2RB, NKX2-1, ABCA3, SFTPC , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
50 %
Dyskeratosis congenita type 1.

By Bioarray in Spain.

TERT
Specificity
100 %
Genes
50 %
Idiopathic pulmonary fibrosis type 1.

By Bioarray in Spain.

TERT
Specificity
100 %
Genes
50 %
Solid Tumor Gene Set.

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

BRCA1, BRCA2, VHL, APC, MLH1, PTEN, TP53, FOXL2, PPARG, WT1, RB1, RET, RAF1, IDH2, FGFR3, AR, BRAF, CREBBP, HRAS, KRAS , (...)

View the complete list with 102 more genes
Specificity
1 %
Genes
50 %
Hematopoietic Disorders Gene Set.

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

RUNX1, TP53, IDH2, BCOR, BRAF, CREBBP, KRAS, NRAS, PTPN11, CBL, NSD1, ATM, GATA2, PAX5, CEBPA, MPL, NF1, SETBP1, GATA3, GATA1 , (...)

View the complete list with 34 more genes
Specificity
2 %
Genes
50 %
CNS Tumor Gene Set.

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

PTEN, TP53, WT1, RB1, SHH, IDH2, BRAF, KRAS, FGFR2, PTCH1, NF2, SUFU, CDKN2A, MET, NTRK1, NF1, FGFR1, SETD2, ATRX, MED12 , (...)

View the complete list with 28 more genes
Specificity
3 %
Genes
50 %
Melanoma Gene Set.

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

PTEN, TP53, RB1, RET, FGFR3, BRAF, HRAS, KRAS, MAP2K1, NRAS, FGFR2, MAP2K2, ALK, CDK4, CDKN2A, MET, NF1, FGFR1, KMT2D, MED12 , (...)

View the complete list with 18 more genes
Specificity
3 %
Genes
50 %
Genitourinary Tumors Gene Set.

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

BRCA1, BRCA2, VHL, MLH1, PTEN, TP53, PPARG, FGFR3, AR, BRAF, CREBBP, HRAS, NRAS, FGFR2, TSC2, TSC1, ATM, PTCH1, CDKN2A, MET , (...)

View the complete list with 24 more genes
Specificity
3 %
Genes
50 %
Guardant360.

By Guardant Health in United States.

BRCA1, BRCA2, VHL, APC, MLH1, PTEN, TP53, HNF1A, RB1, RET, RAF1, IDH2, FGFR3, AR, BRAF, HRAS, KRAS, MAP2K1, NRAS, PTPN11 , (...)

View the complete list with 53 more genes
Specificity
2 %
Genes
50 %
Hereditary Cancer Comprehensive Panel.

By NeoGenomics Laboratories NeoGenomics Laboratories, Inc. in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RUNX1, TP53, WT1, RET, SDHC, SDHB, MEN1, ATM, MRE11 , (...)

View the complete list with 53 more genes
Specificity
2 %
Genes
50 %
Inherited Bone Marrow Failure Panel.

By NeoGenomics Laboratories NeoGenomics Laboratories, Inc. in United States.

BRCA2, RUNX1, RPL35A, HAX1, FANCC, RPS19, TINF2, PALB2, BRIP1, GATA2, SBDS, CEBPA, RAD51C, MPL, RTEL1, WAS, GATA1, RPS26, RPS10, RPL11 , (...)

View the complete list with 38 more genes
Specificity
2 %
Genes
50 %
NeoTYPE® Discovery Profile for Solid Tumors.

By NeoGenomics Laboratories NeoGenomics Laboratories, Inc. in United States.

BRCA1, BRCA2, VHL, APC, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RUNX1, TP53, FOXL2, HNF1A, WT1, RB1, RET, SDHC, RAF1, FH , (...)

View the complete list with 295 more genes
Specificity
1 %
Genes
50 %
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
50 %
OmniSeq Comprehensive.

By OmniSeq, Inc. in United States.

BRCA1, BRCA2, VHL, APC, MSH2, MLH1, PTEN, TP53, FOXL2, HNF1A, PPARG, WT1, RB1, RET, RAF1, IDH2, SOX2, STAT3, PNP, FGFR3 , (...)

View the complete list with 124 more genes
Specificity
1 %
Genes
50 %
DYSKERATOSIS CONGENITA (AUTOSOMAL DOMINANT).

By Laboratorio de Genetica Clinica SL in Spain.

TINF2, RTEL1, TERT
Specificity
34 %
Genes
50 %
IDIOPATHIC PULMONARY FIBROSIS.

By Laboratorio de Genetica Clinica SL in Spain.

TERT, SFTPA2
Specificity
50 %
Genes
50 %
Congenital Dyskeratosis , Sequencing TERT Gene.

By Reference Laboratory Genetics in Spain.

TERT
Specificity
100 %
Genes
50 %
Idiopathic Pulmonary Fibrosis , Sequencing TERT Gene.

By Reference Laboratory Genetics in Spain.

TERT
Specificity
100 %
Genes
50 %
Bone Marrow Failure Related Disorders , Panel Massive Sequencing (NGS) 59 Genes.

By Reference Laboratory Genetics in Spain.

BRCA2, SLC37A4, RPL35A, HAX1, AP3B1, TAZ, FANCC, RMRP, RPS19, TINF2, PALB2, BRIP1, GATA2, SBDS, RAD51C, MPL, WAS, VPS13B, GATA1, RPS26 , (...)

View the complete list with 38 more genes
Specificity
2 %
Genes
50 %
Inflammatory Bowel Disease (IBD) and Related Disorders , Panel Massive Sequencing (NGS) 46 Genes.

By Reference Laboratory Genetics in Spain.

TGFB1, CYBA, IL2RG, IKBKG, TINF2, CYBB, WAS, GATA3, FOXP1, FOXP3, DKC1, ABCB1, TERC, TERT, SH2D1A, NCF2, NCF4, WRAP53, NOD2, CD40LG , (...)

View the complete list with 25 more genes
Specificity
3 %
Genes
50 %
Cutaneous Malignant Melanoma , Panel Massive Sequencing (NGS) 10 Genes.

By Reference Laboratory Genetics in Spain.

BRCA2, PTEN, TP53, RB1, MC1R, CDK4, CDKN2A, MITF, TERT, BAP1
Specificity
10 %
Genes
50 %
Acute Myeloid Leukemia (Susceptibility to) , Panel Massive Sequencing (NGS) 21 Genes.

By Reference Laboratory Genetics in Spain.

RUNX1, TP53, WT1, IDH2, KRAS, NSD1, GATA2, CEBPA, DNMT3A, TERC, TERT, KIT, ASXL1, FLT3, NPM1, JAK2, IDH1, PICALM, CBFB, LPP , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
50 %
Idiopathic Aplastic Anemia , Panel Massive Sequencing (NGS) 6 Genes.

By Reference Laboratory Genetics in Spain.

NBN, SBDS, PRF1, TERC, TERT, IFNG
Specificity
17 %
Genes
50 %
Congenital Dyskeratosis , Panel Massive Sequencing (NGS) 8 genes.

By Reference Laboratory Genetics in Spain.

TINF2, DKC1, TERC, TERT, CTC1, WRAP53, NHP2, NOP10
Specificity
13 %
Genes
50 %
Familial Pulmonary Fibrosis and Pulmonary Surfactant Metabolism Dysfunction , Panel Massive Sequencing (NGS) 9 Genes.

By Reference Laboratory Genetics in Spain.

TERC, TERT, CSF2RA, CSF2RB, MUC5B, ABCA3, SFTPC, SFTPB, SFTPA2
Specificity
12 %
Genes
50 %
Phosphorus Leukemia including Fanconi Anemia Genes Panel.

By Phosphorus Diagnostics LLC in United States.

BRCA2, EPCAM, MSH2, PMS2, MSH6, MLH1, RUNX1, TP53, FANCC, BLM, HRAS, TINF2, ATM, NBN, PALB2, BRIP1, GATA2, CEBPA, RAD51C, NF1 , (...)

View the complete list with 15 more genes
Specificity
3 %
Genes
50 %
Phosphorus Leukemia Panel.

By Phosphorus Diagnostics LLC in United States.

EPCAM, MSH2, PMS2, MSH6, MLH1, RUNX1, TP53, BLM, HRAS, TINF2, ATM, NBN, GATA2, CEBPA, NF1, DKC1, TERC, TERT
Specificity
6 %
Genes
50 %
Phosphorus Pan-Cancer Panel.

By Phosphorus Diagnostics LLC in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, WT1, RB1, SDHAF2, RET, SDHC, FH , (...)

View the complete list with 63 more genes
Specificity
2 %
Genes
50 %
Phosphorus Pediatric Cancers Panel.

By Phosphorus Diagnostics LLC in United States.

VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, PTEN, RECQL4, RUNX1, TP53, WT1, RB1, SDHAF2, RET, SDHC, FH, SDHB, TMEM127, MEN1 , (...)

View the complete list with 33 more genes
Specificity
2 %
Genes
50 %
Tempus xT assay.

By Tempus Labs, Inc. in United States.

BRCA1, BRCA2, MTHFR, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, ATP7B, FOXL2, HNF1A, WT1, RB1 , (...)

View the complete list with 571 more genes
Specificity
1 %
Genes
50 %
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
50 %
CEN4GEN Comprehensive Hereditary Cancer Syndrome: Gene sequencing Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

BRCA1, BRCA2, HFE, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, WT1, RB1, SDHAF2, RET, MC1R , (...)

View the complete list with 123 more genes
Specificity
1 %
Genes
50 %

Alternate names

Cri-du-chat Syndrome Is also known as cat cry syndrome, chromosome 5p deletion syndrome.



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