Chromosomal Microarray Analysis

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%.

S.No Test name TAT*
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

Sample Collection:
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

S.No Test name
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
7 Currarino Syndrome
8 Dandy–Walker Syndrome
9 Ehlers-Danlos Syndrome
10 Fryns Syndrome
11 FOXP2-Related Speech and Language Disorders
12 Greig Cephalopolysyndactyly Syndrome
13 Hirschsprung Disease
14 Holoprocencephaly Microdeletion Syndrome
15 Hypotonia Cystinuria Syndrome
16 Isolated Aniridia / Wilms tumor-aniridia-genital anomalies-retardation (WAGR) syndrome
17 Jacobsen Syndrome
18 KANSL1-related intellectual disability syndrome / 17q21.31 Micro Deletion Syndrome
19 KBG 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
30 Mowat-Wilson Syndrome
31 Nance-Horan 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
36 Pitt-Hopkins Syndrome
37 Potocki-Lupski Syndrome / 17p11.2 Microdeletion Syndrome
38 Praderwilli Syndrome
39 PURA Syndrome / 5q31.3 Microdeletion syndrome
40 Recurrent 1q21.1 Microdeletion
41 Rubinstein-Taybi Syndrome
42 Saethre-Chotzen Syndrome
43 Smith-Magenis Syndrome
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.