EpiSign – Complete excluding late onset disorders – Methylation analysis

Test code: AUA00002
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Check the disclaimer, the latest syndromes and corresponding genes included in this panel (note late onset is excluding cerebellar axtaxia DNMT1). Specify the syndrome of interest when ordering.

Episign list of disorders and genes v3

Trinucleotide expansion repeat
  • Mental retardation, FRA12A type – DIP2B promoter
  • FXS Fragile X syndrome (Affected males ONLY) – FMR1 promoter
Imprinting defect
  • Angelman syndrome – SNRPN promoter
  • Beckwith-Wiedemann syndrome – Both ICF1 and ICF2 on Chr 11
  • Diabetes mellitus, transient neonatal 1 (TNDM1) – PLAGL1, pUPD6
  • Kagami-Ogatta syndrome – MEG3 promoter
  • Mulchandani-Bhoj-Conlin syndrome (MBCS) – mUPD20
  • Prader-Willi syndrome – SNRPN promoter
  • Silver Russel syndrome – UPD11 (both ICF1 and ICF2), UPD7
  • Temple syndrome – MEG3 promoter
Epi-signature
  • Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant – DNMT1
  • Alpha-thalassemia mental retardation syndrome – ATRX
  • Arboleda-Tham syndrome (formerly MRD32) (MRD32) – KAT6A (616268)
  • Armfield XLID (MRXSA) – FAM50A (300261)
  • Autism, susceptibility to, 18 – CHD8
  • BAFopathies: Coffin-Siris (CSS1-4,8) & Nicolaides-Baraitser (NCBRS) syndromes – ARID1A, ARID1B, SMARCB1, SMARCA4, SMARCA2
  • Beck-Fahrner syndrome (BEFAHRS)3,4 – TET3 (618798)
  • Blepharophimosis Intellectual disability SMARCA2 Syndrome – SMARCA2
  • Börjeson-Forssman-Lehmann syndrome – PHF6
  • Coffin-Siris syndrome-9 (CSS9) – SOX11 (615866)
  • Cornelia de Lange syndrome – NIPBL, RAD21, SMC3, SMC1A
  • CHARGE syndrome – CHD7
  • Down syndrome – Chr21 trisomy
  • Dystonia-28 (DYT28) – KMT2B (617284)
  • Chr7q11.23 duplication syndrome – Chr7q11.23 duplication
  • Epileptic encephalopathy, childhood-onset – CHD2
  • Floating Harbour syndrome – SRCAP
  • Gabriele-de Vries syndrome (GADEVS) – YY1 (617557)
  • Genitopatellar syndrome – KAT6B
  • Hunter McAlpine syndrome – Chr5q35-qter duplication involving NSD1
  • Helsmoortel-van der Aa syndrome (ADNP syndrome [Terminal] -outside c.2000-2340) – ADNP
  • Helsmoortel-van der Aa syndrome (ADNP syndrome [Centrall] -between c.2000-2340) – ADNP
  • Immunodeficiency-centromeric instability-facial anomalies syndrome type 1 – DNMT3B1
  • Immunodeficiency-centromeric instability-facial anomalies syndrome types 2-4 – CDCA711, ZBTB24, HELLS
  • Kabuki syndrome – KMT2D, KDM6A
  • KDM2B-related syndrome (KDM2B) – KDM2B (NA)
  • KDM4B-related syndrome (KDM4B) – KDM4B (NA)
  • Koolen de Vries syndrome – KANSL1
  • Kleefstra syndrome – EHMT1
  • Luscan-Lumish syndrome (LLS) – SETD2 (616831)
  • Menke-Hennekam syndrome 1 & 2 (MKHK1/MKHK2) IDR4 domain – CREBBP, EP300 (618332, 618333)
  • Mental retardation, autosomal dominant 23 – SETD5
  • Mental retardation, autosomal dominant 51 – KMT5B
  • Mental retardation, X-linked 93 – BRWD3
  • Mental retardation, X-linked 97 – ZNF711
  • Mental retardation, X-linked, syndromic, Claes-Jensen type – KDM5C
  • Mental retardation, X-linked syndromic, Nascimento type – UBE2A
  • Mental retardation, X-linked, Snyder-Robinson type – SMS
  • Myopathy, lactic acidosis, and sideroblastic anemia-1 (MLASA2) – YARS2 (600462)
  • Phelan-McDermid syndrome (PHMDS) – Chr22q13.3del (606232)
  • PRC2 complex disorders (Weaver and Cohen-Gibson syndromes) – EZH2, EED
  • Rahman syndrome – HIST1H1E
  • Renpenning syndrome (RENS1) – PQBP1 (309500)
  • Rubinstein-Taybi syndrome 1 –  CREBBP
  • Rubinstein-Taybi syndrome –  EP300
  • SBBYSS syndrome – KAT6B
  • SETD1B-related syndrome – SETD1B
  • Sotos syndrome – NSD1
  • Tatton-Brown-Rahman syndrome – DNMT3A
  • Velocardiofacial syndrome (VCFS) – Chr22q11.2_del (192430)
  • Wiedemann-Steiner syndrome – KMT2A
  • Wolf-Hirschhorn syndrome – Chr4p16.13 deletion
  • Williams syndrome – Chr7q11.23 deletion

Indications

For patients with developmental delay, or with one or more overlapping features suggestive of one of the represented epigenetic signature conditions or imprinting disorders. Order Episign Specific for confirming a diagnosis of specific genes with the presence of a variant of unknown clinical significance.

Detection

Methylation abnormalities may require additional targeted genetic testing. This test will not detect females with Fragile X (FMR1) expansions.

Lab method

Methylation array incl EpiSign Analysis
Turnaround time

2 months
Location

Location AMC
Price € 850,00

Disorder(s)

  • Methylation disorders
  • ADNP related syndrome
  • Angelman syndrome - AS (OMIM: 105830)
  • BAFopathies
  • Beckwith Wiedemann syndrome - BWS (OMIM: 130650)
  • Claes-Jensen syndrome
  • Cornelia de Lange syndrome
  • Floating Harbor syndrome
  • Fragile X syndrome (Affected males only) (OMIM: 300624)
  • Genitopatellar syndrome
  • Kabuki syndrome
  • Kagami–Ogata syndrome UPD14 (OMIM: 608149)
  • Mental retardation, FRA12A type (OMIM: 136630)
  • Prader Willi syndrome - PWS (OMIM: 176270)
  • Silver-Russell syndrome - SRS (OMIM: 180860)
  • Sotos syndrome
  • Temple syndrome (OMIM: 616222)
  • Angelman syndrome - AS (OMIM: 105830)
  • Prader Willi syndrome - PWS (OMIM: 176270)
  • CHARGE syndrome (OMIM: 214800)
  • Cerebellar ataxia, deafness and narcolepsy a.d. ADCADN syndrome - DNMT1 (OMIM: 604121)
  • Alpha-thalassemia mental retardation (ATRX) syndrome (OMIM: 301040)
  • Autism, susceptibility to, 18 (OMIM: 615032)
  • Blepharophimosis SMARCA2 Synd
  • Coffin Siris syndrome CSS (1-4, 8)
  • Down syndrome (OMIM: 602523)
  • Nicolaides-Baraitser (NCBRS) syndrome (OMIM: 601358)
  • Blepharophimosi ptosis and epicanthus inversus syndrome - BPES (OMIM: 110100)
  • Mental Retardation
  • Börjeson-Forssman-Lehmann Syndrome (OMIM: 301900)
  • Nicolaides Baraitser syndrome (OMIM: 601358)
  • Williams-Beuren syndrome WBS (OMIM: 194050)

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