Test Highlights – High-density SNP and CNV probe MicroArrays
Detects DNA copy number gains and losses (CNVs), loss of heterozygosity (LOH) and Uniparental Disomy (UPD), parent-of-origin analysis, enhanced detection of low-level mosaics, clonality, genomic contamination, and ploidy adjustments.
Whole-genome coverage includes RefSeq, OMIM®, ClinGen and DECIPHER/DDG2P constitutional gene regions, and Sanger cancer genes.
ACMG recommends Cyto MicroArray as first tier diagnostic test for development disorders, Mental retardation, Autism Spectrum conditions & congenital defects.
High utility in obstetric practice for pregnancy losses, ultrasound fetal defects.
Case specific interpretation detailing prognosis, recurrence risk and management.
GeneTech’s Cyto MicroArrays
GeneTech’s High Resolution (HighRes) arrays have 750,000 markers for copy number analysis, including 200,000 SNP and 550,000 non-polymorphic probes.
Fetoloss Cyto Array:
Analysis of miscarriage samples, >200kb loss or >400kb gain of submicroscopic aberrations, LOH/AOH, UPD, triploidy and mosaics >20%. The array has the ability to analyze DNA from nearly any tissue of products of conception (POC) including those that cannot be cultured.
Fetoloss Cyto Array (HighRes):
The array is used to evaluate the cause for loss of pregnancy in second trimester including intrauterine demise & growth retardation cases, causative total aneuploidy, and partial aberrations with >100 kb loss or >200 gain, detection of LOH and UPD with high sensitivity.
FetoScan Prenatal Cyto Array (HighRes):
Recent studies confirm that a genomic SNP Cyto array should be the preferred first-tier technique to detect causative chromosome aberrations in fetuses with ultrasound anomalies (Srebniak et al). In addition to causative total aneuploidy and partial aberrations with >100kb loss or >200 gain, the array detects LOH and UPD with high sensitivity.
GeneSharp Pediatric CytoArray (HighRes):
Total & partial anueploidies, whole arm deletions and duplications of chromosomes, loss of heterozygosity (LOH) and uniparental disomy (UPD) with high sensitivity, and microdeletions & duplications with >50-100kb loss or >150-200 gain. Mosaicism >15%.
|1||FetoLoss CytoArray – Reproductive Loss Microarray||15|
|2||FetoLoss CytoArray (High Res) – Reproductive Loss Microarray||15|
|3||FetoScan CytoArray (High Res) – Prenatal Microarray||15|
|4||GeneSharp CytoArray (High Res) – Pediatric Microarray||15|
Blood – 3ml in PURPLE TOP (EDTA) Vacutainer
Amniotic Fluid – 20 to 30ml in Sterile Centrifuge Tube
CVS/POC – Tissue in normal saline in sterile container
Transport within 48 hrs at room temperature.
Microdeletion Syndromes Identified by Cyto
|1||Angelman Syndrome (Deletions)|
|2||Autism Dyslexia Microdeletion Syndrome / 7q31.1 Micro Deletion Syndrome|
|3||Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome|
|4||Brachydactyly-Mental Retardation Syndrome / 2q37 Microdeletion Syndrome|
|5||Corpus Callosum Agenesis Microdeletion|
|6||Cri du chat Syndrome / 5p- Syndrome|
|11||FOXP2-Related Speech and Language Disorders|
|12||Greig Cephalopolysyndactyly Syndrome|
|14||Holoprocencephaly Microdeletion Syndrome|
|15||Hypotonia Cystinuria Syndrome|
|16||Isolated Aniridia / Wilms tumor-aniridia-genital anomalies-retardation (WAGR) syndrome|
|18||KANSL1-related intellectual disability syndrome / 17q21.31 Micro Deletion Syndrome|
|20||Kleefstra Syndrome / Microdeletion of 9q34.3|
|21||KMT2B-related dystonia (DYT-KMT2B)|
|22||LAMA2-related Muscular Dystrophy|
|23||MECP2 Duplication Syndrome|
|24||Leri-Weill Dyschondrosteosis / Short stature caused by SHOX deficiency|
|25||MBD5 Haploinsufficiency / 2q23.1 Microdeletion Syndrome|
|26||Microphthalmia with linear skin defects (MLS) syndrome / Monosomy of Xp22 region|
|27||Microphthalmia, anophthalmia, and coloboma spectrum of disorders|
|28||MIDAS syndrome / Microphthalmia with linear skin defects syndrome|
|29||Miller Dieker Syndrome|
|32||Nonsyndromic 46,XX testicular disorders of sex development|
|33||PARK2 Microdeletion Syndrome|
|34||Pelizaeus-Merzbacher disease / Spastic paraplegia 2|
|35||Phelan-McDermid Syndrome / 22q13.3 Microdeletion Syndrome|
|37||Potocki-Lupski Syndrome / 17p11.2 Microdeletion Syndrome|
|39||PURA Syndrome / 5q31.3 Microdeletion syndrome|
|40||Recurrent 1q21.1 Microdeletion|
|44||Split Hand Foot Malformation 1 (SHFM1)|
|45||Van der Woude Syndrome/ Popliteal Pterygium Syndrome|
|46||Von Hippel Lindau (VHL) syndrome|
|47||Williams Syndrome/ 7q11.23 Deletion Syndrome/ Williams-Beuren syndrome|
|48||Wolf Hirschhorn Syndrome / 4p16.3 deletion syndrome|
|49||Xp21 deletion (DMD like)|
|50||Xq28 Duplication Syndrome|
Call for Microdeletion syndromes not listed here.