Hyperbilirubinemia, Transient Familial Neonatal; Hblrtfn

Clinical Features

Top most frequent phenotypes and symptoms related to Hyperbilirubinemia, Transient Familial Neonatal; Hblrtfn

  • Intellectual disability
  • Hearing impairment
  • Milia
  • Jaundice
  • Hyperbilirubinemia
  • Cerebral palsy
  • Ketonuria
  • Conjugated hyperbilirubinemia
  • Neonatal hyperbilirubinemia
  • Unconjugated hyperbilirubinemia
And another 2 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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Hyperbilirubinemia, Transient Familial Neonatal; Hblrtfn Recommended genes panels

Panel Name, Specifity and genes Tested/covered
GeneAware Complete Panel Version 2 (Female).

By Baylor Miraca Genetics Laboratories in United States.

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

View the complete list with 139 more genes
Specificity
1 %
Genes
100 %
GeneAware Complete Panel Version 2 (Male).

By Baylor Miraca Genetics Laboratories in United States.

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

View the complete list with 129 more genes
Specificity
1 %
Genes
100 %
Gilbert syndrome/Irinotecan toxicity.

By Molecular Genetics Diagnostic Laboratory Detroit Medical Center University Laboratories in United States.

UGT1A1
Specificity
100 %
Genes
100 %
UGT1A1 Irinotecan Toxicity.

By Molecular Diagnostic Laboratory LabCorp in United States.

UGT1A1
Specificity
100 %
Genes
100 %
UGT1A1 Deletion/duplication analysis.

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

UGT1A1
Specificity
100 %
Genes
100 %
UGT1A1 Sequencing.

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

UGT1A1
Specificity
100 %
Genes
100 %
UGT1A1 sequencing.

By Genetic Services Laboratory University of Chicago in United States.

UGT1A1
Specificity
100 %
Genes
100 %
UGT1A1 genotyping for Gilbert Syndrome.

By Genetic Services Laboratory University of Chicago in United States.

UGT1A1
Specificity
100 %
Genes
100 %
UGT1A1 deletion/duplication analysis.

By Genetic Services Laboratory University of Chicago in United States.

UGT1A1
Specificity
100 %
Genes
100 %
UGT1A1 genotyping for irinotecan dosing.

By Genetic Services Laboratory University of Chicago in United States.

UGT1A1
Specificity
100 %
Genes
100 %
Hereditary Hemolytic Anemia Sequencing, 28 Genes.

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

ALDOA, GPI, AK1, NT5C3A, CYB5R3, HK1, PFKM, ADA, G6PD, UGT1A1, PIEZO1, PKLR, PGK1, SLC4A1, EPB41, SPTB, SPTA1, ANK1, EPB42, GCLC , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
100 %
Crigler-Najjar Syndrome.

By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust in United Kingdom.

UGT1A1
Specificity
100 %
Genes
100 %
Gilbert Syndrome.

By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust in United Kingdom.

UGT1A1
Specificity
100 %
Genes
100 %
UGT1A1. Complete sequencing.

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

UGT1A1
Specificity
100 %
Genes
100 %
UGT1A1. Complete sequencing.

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

UGT1A1
Specificity
100 %
Genes
100 %
UGT1A1. Detection of the allele A(TA)7TAA in promotor region by real time PCR.

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

UGT1A1
Specificity
100 %
Genes
100 %
Gilbert Syndrome - UGT1A1 Sequence Analysis for Promoter Region.

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

UGT1A1
Specificity
100 %
Genes
100 %
Gilbert syndrome (TA insertion on UGT1A1 gene).

By CGC Genetics in Portugal.

UGT1A1
Specificity
100 %
Genes
100 %
Gilbert syndrome (sequence analysis of UGT1A1 gene).

By CGC Genetics in Portugal.

UGT1A1
Specificity
100 %
Genes
100 %
Crigler Najjar syndrome types 1 and 2 (sequence analysis of UGT1A1 gene).

By CGC Genetics in Portugal.

UGT1A1
Specificity
100 %
Genes
100 %
Gilbert syndrome.

By Institute of Medical Genetics and Genomics Sir Ganga Ram Hospital in India.

UGT1A1
Specificity
100 %
Genes
100 %
Crigler Najjar Syndrome.

By Institute of Medical Genetics and Genomics Sir Ganga Ram Hospital in India.

UGT1A1
Specificity
100 %
Genes
100 %
Gilbert Syndrome.

By Laboratory of Gastroenterology and Hepatology Radboud university medical center in Netherlands.

UGT1A1
Specificity
100 %
Genes
100 %
Crigler-Najjar Syndrome and Gilbert Syndrome via the UGT1A1 Gene.

By PreventionGenetics PreventionGenetics in United States.

UGT1A1
Specificity
100 %
Genes
100 %
Gilbert Syndrome.

By MGZ Medical Genetics Center in Germany.

UGT1A1
Specificity
100 %
Genes
100 %
Crigler-Najjar Syndrome.

By Bioscientia GmbH Center for Human Genetics in Germany.

UGT1A1
Specificity
100 %
Genes
100 %
Gilbert Syndrome.

By Bioscientia GmbH Center for Human Genetics in Germany.

UGT1A1
Specificity
100 %
Genes
100 %
Gilbert syndrome.

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

UGT1A1
Specificity
100 %
Genes
100 %
Crigler-Najjar syndrome.

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

UGT1A1
Specificity
100 %
Genes
100 %
Gilbert syndrome.

By DNA Diagnostics Laboratory University Hospital Ostrava in Czech Republic.

UGT1A1
Specificity
100 %
Genes
100 %
Gilbert syndrome.

By Centogene AG - the Rare Disease Company in Germany.

UGT1A1
Specificity
100 %
Genes
100 %
CentoICU platinum plus.

By Centogene AG - the Rare Disease Company in Germany.

BRCA2, F2, F5, MTHFR, UBE3A, MCCC1, MCCC2, AARS2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2 , (...)

View the complete list with 494 more genes
Specificity
1 %
Genes
100 %
CentoICU platinum.

By Centogene AG - the Rare Disease Company in Germany.

BRCA2, F2, F5, MTHFR, UBE3A, MCCC1, MCCC2, AARS2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2 , (...)

View the complete list with 494 more genes
Specificity
1 %
Genes
100 %
Crigler-Najjar syndrome.

By Medical Genetics Laboratory Diagenom GmbH in Germany.

UGT1A1
Specificity
100 %
Genes
100 %
Gilbert Syndrome.

By Medical Genetics Laboratory Diagenom GmbH in Germany.

UGT1A1
Specificity
100 %
Genes
100 %
Crigler-Najjar Syndrome.

By bio.logis Center for Human Genetics Diagnosticum in Germany.

UGT1A1
Specificity
100 %
Genes
100 %
Pharmacogenetic panel.

By bio.logis Center for Human Genetics Diagnosticum in Germany.

MTHFR, COMT, SOD2, ALDH2, G6PD, UGT1A1, DPYD, ABCB1, CYP2C19, CYP2D6, TPMT, VKORC1, PON1, SLCO1B1, CYP2C9, CYP1A2, BCHE, CYP3A4, ADRB2, NAT2 , (...)

View the complete list with 9 more genes
Specificity
4 %
Genes
100 %
Single gene testing UGT1A1.

By CeGaT GmbH in Germany.

UGT1A1
Specificity
100 %
Genes
100 %
Crigler-Najjar Syndrome.

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

UGT1A1
Specificity
100 %
Genes
100 %
UGT1A1.

By Innovagenomics Innovagenomics S.L in Spain.

UGT1A1
Specificity
100 %
Genes
100 %
NGS Panel for Hereditary hemolytic anemia including membranopathies (spherocytosis, elliptocytosis, xerocytosis, stomatocytosis, pyropoikylocytosis) and enzymopathies.

By BLOODGENETICS BLOODGENETICS in Spain.

ALDOA, ABCB6, GPX1, GPI, AK1, NT5C3A, CYB5R3, HK1, PFKM, ADA, SLC2A1, G6PD, UGT1A1, PIEZO1, PKLR, PGK1, ABCG5, ABCG8, SLC4A1, GYPC , (...)

View the complete list with 13 more genes
Specificity
4 %
Genes
100 %
UGT1A1 sequencing.

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

UGT1A1
Specificity
100 %
Genes
100 %
Crigler-Najjar syndrome.

By Praxis fuer Humangenetik Wien in Austria.

UGT1A1
Specificity
100 %
Genes
100 %
Gilbert syndrome.

By Praxis fuer Humangenetik Wien in Austria.

UGT1A1
Specificity
100 %
Genes
100 %
qCarrier Plus.

By Quantitative Genomic Medicine Laboratories, SL in Spain.

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

View the complete list with 280 more genes
Specificity
1 %
Genes
100 %
Gilbert syndrome.

By MedGene in Slovakia.

UGT1A1
Specificity
100 %
Genes
100 %
Crigler-Najjar syndrome type 1 and 2: UGT1A1 gene sequence analysis.

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

UGT1A1
Specificity
100 %
Genes
100 %
Gilbert syndrome: UGT1A1 gene TA insertion in promotor.

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

UGT1A1
Specificity
100 %
Genes
100 %
Neonatal and Adult Cholestasis: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ABCB11, ABCB4, ATP8B1, INVS, HNF1B, TRMU, CC2D2A, JAG1, NPHP3, NPHP1, NPHP4, POLG, SLC25A13, SMPD1, DGUOK, FAH, MPV17, CYP27A1, MKS1, CFTR , (...)

View the complete list with 37 more genes
Specificity
2 %
Genes
100 %
Hereditary Hemolytic Anemia Comprehensive Sequencing, Varies.

By Mayo Clinic Genetic Testing Laboratories Mayo Clinic in United States.

ALDOA, HBB, GPI, AK1, NT5C3A, HK1, PFKM, FANCC, RPS19, SLC2A1, G6PD, UGT1A1, PIEZO1, KIF23, GATA1, KLF1, PKLR, CDAN1, SEC23B, PGK1 , (...)

View the complete list with 20 more genes
Specificity
3 %
Genes
100 %
UGT1A1.

By Fulgent Genetics Fulgent Genetics in United States.

UGT1A1
Specificity
100 %
Genes
100 %
UGT1A1 Gene Polymorphism (TA Repeat).

By Quest Diagnostics Nichols Institute San Juan Capistrano in United States.

UGT1A1
Specificity
100 %
Genes
100 %
UGT1A1 Gene Polymorphism (TA Repeat) (NY).

By Quest Diagnostics Nichols Institute San Juan Capistrano in United States.

UGT1A1
Specificity
100 %
Genes
100 %
UGT1A1.

By Genelex in United States.

UGT1A1
Specificity
100 %
Genes
100 %
Cholestasis Panel.

By Blueprint Genetics in Finland.

EPCAM, ABCB11, ABCB4, ATP8B1, TRMU, JAG1, NPHP3, NPHP1, NPHP4, SLC25A13, SMPD1, DGUOK, FAH, MKS1, CFTR, NPC1, NPC2, PEX2, SERPINA1, UGT1A1 , (...)

View the complete list with 26 more genes
Specificity
3 %
Genes
100 %
UGT1A1 Genotyping.

By Cancer Genetics, Inc. Cancer Genetics, Inc. in United States.

UGT1A1
Specificity
100 %
Genes
100 %
Gilbert syndrome.

By Bioarray in Spain.

UGT1A1
Specificity
100 %
Genes
100 %
Crigler-Najjar syndrome.

By Bioarray in Spain.

UGT1A1
Specificity
100 %
Genes
100 %
CarrierMap.

By Recombine in United States.

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

View the complete list with 281 more genes
Specificity
1 %
Genes
100 %
Irinotecan sensitivity.

By Genomic Engenharia Molecular in Brazil.

UGT1A1
Specificity
100 %
Genes
100 %
Crigler-Najjar type 1 (UGT1A1) Targeted Testing.

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

UGT1A1
Specificity
100 %
Genes
100 %
UGT1A1 Gene Sequencing and Deletion/Duplication Analysis.

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

UGT1A1
Specificity
100 %
Genes
100 %
Next Generation Sequencing for Jaundice Associated Genes Variation Test.

By National Taiwan University Hospital A1 Center National Taiwan University Hospital in Taiwan.

HFE, ABCB11, ABCB4, ATP7B, ATP8B1, BCS1L, TWNK, INVS, HBB, HNF1B, AMACR, JAG1, POLG, RRM2B, SLC25A13, DGUOK, MPV17, SUCLG1, ASS1, CYP27A1 , (...)

View the complete list with 53 more genes
Specificity
2 %
Genes
100 %
Mutation analysis for common promoter mutation in Gilbert syndrome..

By Diagnostics Division Centre for DNA Fingerprinting and Diagnostics in India.

UGT1A1
Specificity
100 %
Genes
100 %
Chemo DME Panel.

By Castle Medical Molecular Diagnostics Castle Medical, LLC in United States.

UGT1A1, DPYD, TPMT
Specificity
34 %
Genes
100 %
OneOme RightMed comprehensive test.

By OneOme in United States.

F2, F5, COMT, UGT1A1, DPYD, CYP2C19, CYP2D6, SLC6A4, DRD2, TPMT, VKORC1, SLCO1B1, CYP2C9, HLA-B, CYP1A2, IFNL3, CYP3A4, CYP4F2, CYP3A5, CYP2B6 , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
100 %
CRIGLER-NAJJAR SYNDROME.

By Laboratorio de Genetica Clinica SL in Spain.

UGT1A1
Specificity
100 %
Genes
100 %
Crigler-Najjar Syndrome Type 1 , Sequencing UGT1A1.

By Reference Laboratory Genetics in Spain.

UGT1A1
Specificity
100 %
Genes
100 %
Crigler-Najjar Syndrome Type 2 , Sequencing UGT1A1.

By Reference Laboratory Genetics in Spain.

UGT1A1
Specificity
100 %
Genes
100 %
Gilbert Syndrome, Sequencing UGT1A1 Gene.

By Reference Laboratory Genetics in Spain.

UGT1A1
Specificity
100 %
Genes
100 %
Gilbert syndrome.

By Labor Dr. Wisplinghoff in Germany.

UGT1A1
Specificity
100 %
Genes
100 %
Crigler-Najjar syndrome.

By Labor Dr. Wisplinghoff in Germany.

UGT1A1
Specificity
100 %
Genes
100 %
PharmacoScan.

By RPRD Diagnostics, LLC RPRD Diagnostics, LLC in United States.

G6PD, UGT1A1, DPYD, CYP2C19, CYP2D6, TPMT, VKORC1, SLCO1B1, CYP2C9, CYP3A4, CYP3A5
Specificity
10 %
Genes
100 %
152 Integrated Advantage NGS Solid Tumor Panel.

By Integrated Molecular Diagnostics Pathology, Inc. in United States.

BRCA1, BRCA2, MTHFR, VHL, APC, MLH1, PTEN, TP53, RB1, RET, RAF1, IDH2, TYMP, STAT3, FGFR3, AR, FANCC, BRAF, HRAS, KRAS , (...)

View the complete list with 132 more genes
Specificity
1 %
Genes
100 %
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
100 %
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
100 %

Alternate names

Hyperbilirubinemia, Transient Familial Neonatal; Hblrtfn Is also known as lucey-driscoll syndrome;lucey-driscoll syndrome.


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