Category
Molecular genetic pathology & cytogenetics
Sub Category
Cytogenetics
Synonym/Aliases
Congenital Snp Microarray; Postnatal Array Cgh; Congenital Array; Array Chrome
Abbreviations
ACGH; CMA
Type
INDIVIDUAL TEST
Results
RESULTS READY AFTER 18-21 DAYS
Method
CYTOGENOMIC MICROARRAY (CMA) USING BLOOD; CYTOGENOMIC SINGLE NUCLEOTIDE POLYMORPHISM (SNP) MICROARRAY.
Temp
REFRIGERATE; TIME SENSITIVE THEREFORE PROMPTLY NOTIFY & DELIVER TO THE LAB.
Setup
BATCHED
Components Parameters
N/A
PRE-ANALYTIC CONSIDERATIONS
Test Ordering Instructions
FILL OUT TEST REQUEST FORM FULLY & LEGIBLY. PROVIDE CLINICAL HISTORY
Patient preparation
N/A
Sample type
EDTA WHOLE BLOOD
Container/ preservative
EDTA (PURPLE TOP) VACUTAINER
Sample volume
3 ML (CHILDREN AT LEAST 1-2 ML).
Rejection criteria
LABELING ISSUE (UNLABELED/ MISLABELED); MISSING REQUEST FORM; MISMATCH BETWEEN REQUEST FORM & SAMPLE DETAILS; MISSING AGE/ GENDER; WRONG SAMPLE TYPE; INSUFFICIENT SAMPLE; HEMOLYZED SAMPLE, CLOTTED SAMPLE
Other Instructions
- N/A
Reference intervals
INTERPRETIVE DATA IS PROVIDED ON THE REPORT.
Clinical Utility
PRIMARILY USED FOR EVALUATION OF PEDIATRIC PATIENTS WITH DYSMORPHIC FEATURES, CONGENITAL ABNORMALITIES, AUTISM, INTELLECTUAL & LEARNING DISABILITIES, DEVELOPMENTAL DELAYS ETC. DIAGNOSIS OF CONGENITAL DISORDERS ARISING FROM GENOMIC COPY NUMBER VARIATIONS E.G. ANEUPLOIDIES (E.G. TRISOMIES, TURNER SYNDROME, KLINEFELTER SYNDROME), MOSAICISM >20%, MICRODELETIONS & MICRODUPLICATIONS WITHIN THE ASSAY'S RESOLUTION.
Test Limitations/ Confounders
CANNOT DETECT BALANCED CHROMOSOMAL REARRANGEMENTS, SINGLE GENE DISORDERS, MOSAICISM <20% ETC. HIGHER RISK OF UNCERTAIN & INCIDENTAL FINDINGS THAN KARYOTYPING.