Category

Molecular genetic pathology & cytogenetics

Sub Category

Cytogenetics

Synonym/Aliases

SNP MICROARRAY; ARRAY CGH; ARRAY FETO

Abbreviations

poc acgh; poc cma

Type

Individual Test

Results

RESULTS READY AFTER 18-21 DAYS

Method

CYTOGENOMIC MICROARRAY (CMA) USING POCs; CYTOGENOMIC SINGLE NUCLEOTIDE POLYMORPHISM (SNP) MICROARRAY.

Temp

REFRIGERATE; TIME SENSITIVE THREFORE NOTIFY LAB PRIOR TO COLLECTION & PROMPTLY DELIVER SAMPLE 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

VIABLE FETAL TISSUE/ PRODUCTS OF CONCEPTION (POCs) IN TISSUE CULTURE MEDIA (OR RPMI/ HANK'S/ RINGER'S LACTATE/ NORMAL SALINE TO WHICH 2-3 DROPS OF GENTAMICIN HAVE BEEN ADDED). FIRST TRIMESTER LOSS: POCs IN CULTURE MEDIA OR NORMAL SALINE WITH ANTIBIOTICS. SECOND TRIMESTER AND BEYOND: DUAL SPECIMENS PREFERRED I.E. 1) PLACENTAL BIOPSY FROM FETAL SIDE WITHIN 1 INCH OF THE PLACENTAL INSERTION SITE PLUS 2) FETAL TISSUE (E.G. MUSCLE BIOPSY FROM MEDIAL ASPECT OF THE THIGH OR FETAL TOE).

Container/ preservative

TISSUE BIOPSY IN STERILE CONTAINER CONTAINING TISSUE CULTURE MEDIUM (OR RPMI/ HANK'S/ RINGER'S LACTATE/ NORMAL SALINE TO WHICH 2-3 DROPS OF GENTAMICIN HAVE BEEN ADDED).

Sample volume

EACH BIOPSY SHOULD BE AT LEAST ~5x5 MM (~SIZE OF PENCIL RUBBER/ ERASER) OR LARGER.

Rejection criteria

LABELING ISSUE (UNLABELED/ MISLABELED); MISSING REQUEST FORM; MISMATCH BETWEEN REQUEST FORM & SAMPLE DETAILS; MISSING AGE/ GENDER; WRONG SAMPLE TYPE; INSUFFICIENT SAMPLE; FROZEN SAMPLE.

Other Instructions

IDENTIFY SAMPLES FROM TWINS UNIQUELY WHERE APPLICABLE.

Reference intervals

INTERPRETIVE DATA IS PROVIDED ON THE REPORT.

Clinical Utility

DIAGNOSIS OF PREGNANCY LOSSES 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.