EpiSign Complete

EpiSign is a methylation assay designed to readily identify proven and reproducible epigenetic signatures by assessing genome-wide methylation. EpiSign has multiple applications in the clinical setting. EpiSign Complete is a comprehensive analysis that includes over 50 genes and disorders indicated below.  This assay can detect multiple methylation abnormalities associated with certain imprinting or triplet repeat conditions. Abnormalities detected using this initial screen may require additional targeted testing to confirm and further characterize the underlying genomic abnormality.  EpiSign can also identify disease-specific methylation patterns involving multiple loci across the genome. These unique methylation patterns, or epigenetics signatures, have been associated with a number of single-gene disorders.

Click on the link for the EpiSign FAQ and the EpiSign brochure for additional details and the full list of disorders:

EpiSign FAQ

EpiSign Brochure

Turnaround Time

4 weeks

CPT Code(s)

0318U

Cost

Contact Lab

Genes

• Angelman syndrome (methylation defects only)
• Beckwith-Wiedemann syndrome
• Diabetes, Mellitus, transient neonatal 1
• Fragile X syndrome (males only)
• Mulchandani-Bhoj-Conlin syndrome
• Prader-Willi syndrome
• Pseudohypoparathyroidism, Type 1A, 1B
• Russell-Silver syndrome (RSS)
• Temple syndrome
• 7q11.23 duplication syndrome
• AD Cerebellar Ataxia Deafness Narcolepsy (ADCADN)
• Alpha-thalassemia X-Linked Intellectual Disability (ATRX)
• BAFopathy - Coffin-Siris and Nicolaides-Baraitser
• BAFopathy 2: Coffin-Siris syndrome 1 & 2
• Beck-Fahrner syndrome
• CHARGE Syndrome
• Cornelia de Lange syndrome
• Trisomy 21 also Down syndrome
• Dystonia-28
• Floating Harbor syndrome
• Gabriele-de Vries
• Helsmoortel-van der Aa syndrome
• Hunter-McAlpine syndrome
• Intellectual Developmental Disorder with seizures and language delay
• KDM2B-related syndrome
• Kleefstra syndrome
• Koolen-De Vries syndrome
• Luscan-Lumish syndrome
• Menke-Hennekam syndrome
• Phelan-McDermid syndrome
• PRC2-complex disorders: Weaver & Cohen-Gibson syndromes
• Rahman syndrome
• Sotos syndrome
• Velocardiofacial syndrome
• Wiedemann-Steiner syndrome
• Williams-Beuren syndrome
• Wolf-Hirschhorn Syndrome
• Arboleda-Tham syndrome
• Coffin-Siris syndrome 9
• Borjeson-Forssman-Lehmann syndrome
• Genitopatellar syndrome
• Immunodeficiency-centromeric instability-facial anomalies syndrome, types 1-4
• Intellectual Developmental Disorder, X-linked syndromic, Armfield type
• Renpenning syndrome
• Tatton-Brown-Rahman Syndrome
• Nicholaides-Baraitser
• Blepharophiosis-impaired intellectual development syndrome
• Developmental and epileptic encephalopathy 94
• Intellectual Developmental Disorder, X-linked syndromic, Claes-Jensen type
• Klinefelter syndrome
• Sifrim-Hitz-Weiss syndrome
• Smith Magenis Syndrome
• Williams-Beuren region duplication syndrome
• Congenital Heart Defect, Dysmorphic Facial Features and Intellectual Developmental Disorder
• KBG syndrome
• Intellectual Developmental Disorder, AD 51
• Intellectual Developmental Disorder, X-linked 93
• Intellectual Developmental Disorder, X-linked 97
• Intellectual Developmental Disorder, X-linked syndromic, Snyder Robinson type
• SLC32A1 related disorder
• Wieacker-Wolff syndrome
• Witteveen-Kolk syndrome
• Intellectual Developmental Disorder, AD 23
• Potocki-Lupski syndrome
• Coffin-Siris 1-4
• Kabuki syndrome 1 & 2
• Rubinstein-Taybi syndrome 1 & 2
• Intellectual Developmental Disorder, X-linked syndromic, Nascimento-type

This test may be a useful screening tool for patients with developmental delay, or with one or more overlapping features suggestive of one of the represented epigenetic signature conditions or imprinting disorders.

Methylation array

The listed genes and conditions have undergone a detailed review by Greenwood Diagnostic Labs, and EpiSign has been validated for clinical use. Some conditions/genes have been classified as having a more moderate signature based on signature strength, small cohort size, or types of mutations tested. Click on the link under test information to see a list of conditions with strong and moderate signatures. Females tested for X-linked conditions may have a moderate signature or a potentially false negative result. Also, this test will not detect females with Fragile X (FMR1) expansions. As with many clinical tests, uncertain results are possible. Please note that a normal result does not rule out the possibility that the patient is affected with one of these conditions. In some cases follow-up testing may be suggested to further characterize the underlying genomic abnormality and to confirm or rule out a diagnosis.

4-6 ml of peripheral blood collected in an EDTA (lavender top) tube is the required specimen type. The minimal blood needed for reliable DNA isolation is 3 ml. Extracted DNA or banked is also accepted for this test given the original specimen was whole blood collected in an EDTA tube.

The specimen should be kept at room temperature and delivered via overnight shipping. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.