EpiSign Variant

Turnaround Time

4 weeks

CPT Code(s)

81479

Cost

Contact Lab

Genes

• 7q11.23 duplication syndrome
• Autosomal Dominant Cerebellar Ataxia, Deafness, Narcolepsy
• Alpha-thalassemia/X-linked impaired intellectual development syndrome
• Angelman syndrome
• BAFopathy 1: Coffin-Siris syndromes 1-4 & Nicolaides-Baraitser
• BAFopathy 2: Coffin-Siris syndrome 1 & 2
• Beck-Fahrner syndrome
• Beckwith-Wiedemann syndrome
• Blepharophiosis-impaired intellectual development syndrome
• Borjeson-Forssman-Lehmann syndrome
• CHARGE syndrome
• Coffin-Siris syndrome 4
• Coffin-Siris syndrome 9
• Cornelia de Lange syndrome
• Autosomal dominant intellectual developmental disorder, type 23
• Dystonia 28
• Developmental and epileptic encephalopathy 94
• Floating-Harbor syndrome
• Fragile X syndrome
• Gabriele-de Vries syndrome
• Genitopatellar syndrome
• Helsmoortel-Van der Aa syndrome
• Hunter-McAlpine craniosynostosis syndrome
• Immunodeficiency-centromeric instability-facial anomalies syndrome, types 1-4
• Intellectual developmental disorder with seizures and language delay
• X-linked syndromic intellectual developmental disorder, Armfield type
• Kagami-Ogata syndrome
• KDM2B-related syndrome
• Kleefstra syndrome
• Koolen-De Vries syndrome
• Luscan-Lumish syndrome
• Menke-Hennekam syndrome
• Mulchandani-Bhoj-Conlin syndrome
• Phelan-McDermid syndrome
• Prader-Willi syndrome
• PRC2-complex disorders: Weaver & Cohen-Gibson syndromes
• Rahman syndrome
• Renpenning syndrome
• Russell-Silver syndrome (RSS)
• SBBYS syndrome
• Sotos syndrome
• Tatton-Brown-Rahman syndrome
• Temple syndrome
• Trisomy 21 also Down syndrome
• Velocardiofacial syndrome
• Wiedemann-Steiner syndrome
• Williams-Beuren syndrome
• Wolf-Hirschhorn syndrome
• Arboleda-Tham syndrome
• X-linked intellectual developmental disorder, type 93
• X-linked intellectual developmental disorder, type 97
• Intellectual Developmental Disorder, X-linked syndromic, Claes-Jensen type
• X-linked syndromic intellectual developmental disorder, Nascimento type
• X-linked syndromic intellectual developmental disorder, Snyder-Robinson type
• Autosomal dominant intellectual developmental disorder, type 51
• Kabuki syndrome 1 & 2
• KBG syndrome
• Klinefelter syndrome
• Nicholaides-Baraitser
• Potocki-Lupski syndrome
• Pseudohypoparathyroidism, Type 1A, 1B
• Rubinstein-Taybi syndrome 1 & 2
• Sifrim-Hitz-Weiss syndrome
• SLC32A1 related disorder
• Rauch-Steindl syndrome
• Wieacker-Wolff syndrome
• Williams-Beuren region duplication syndrome
• Witteveen-Kolk syndrome
• Diabetes mellitus, transient neonatal 1
• Multi-locus Imprinting Disturbance
• 19p13.13 deletion syndrome
• Autosomal dominant intellectual developmental disorder, type 7
• Autosomal dominant intellectual developmental disorder, type 21
• Chung-Jansen syndrome
• White-Kernohan syndrome
• Clark-Baraitser syndrome
• DEGCAGS syndrome
• Developmental and epileptic encephalopathy 54
• Diets-Jongmans syndrome
• Fanconi anemia
• Fetal Valproate syndrome
• Hao-Fountain syndrome
• Mowat-Wilson syndrome
• Developmental delay with variable intellectual disability and dysmorphic facies
• Intellectual developmental disorder with dysmorphic facies, speech delay, and T-cell abnormalities
• KMT2D-related syndrome
• MSL2-related syndrome
• Neuroocular syndrome
• Neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities
• Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
• NSD2 duplication-related syndrome
• Pitt-Hopkins syndrome
• ARID1A duplication-related syndrome
• Xp11.22 duplication syndrome
• Coffin-Siris syndrome 6
• Smith-Magenis syndrome
• Turner syndrome
• White-Sutton syndrome
• X-linked syndromic intellectual developmental disorder, Claes-Jensen type
• 1p36 deletion syndrome
• Congenital heart defects, dysmorphic facial features and intellectual developmental disorder
• Intellectual developmental disorder with autism and macrocephaly
• Ohdo syndrome, SBBYS variant

Patients with a VUS in one of the genes with an established epigenetic signature are good candidates for this analysis.

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.