Postnatal Microarray Testing – Current Criteria
- Intellectual disability/developmental delay
- Multiple congenital anomalies/dysmorphism
- Autism/autistic spectrum disorders
Microarray is available only for patients who meet eligible indications and must be indicated on the requisition. If clinical criteria are not met, the request may be cancelled by the laboratory.
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Indicated |
Not Indicated |
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Intellectual disability/developmental delay |
Clinical suspicion of: Trisomy 13/18/21, Turner syndrome, Klinefelter syndrome, XXX or XYY |
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Multiple congenital anomalies/dysmorphism |
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Autism/Autistic Spectrum disorders |
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For isolated anomalies without additional findings |
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Indicated |
Not Indicated |
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Complex congenital heart anomaly (including hypoplastic left heart, Tetralogy of Fallot, situs inversus) |
Non-complex congenital heart anomaly (atrial septal defect, ventricular septal defect, atrioventricular canal defect, coarctation of the aorta) |
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Growth: short stature (basic workup needs to be available – endocrinologist only) |
Growth: failure to thrive, overgrowth |
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Craniofacial (including CL/P) |
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Gastrointestinal: omphalocele |
Gastrointestinal: Gastroschisis, duodenal atresia, tracheoesophageal fistula |
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Musculoskeletal: limb digit anomalies, thoracic anomaly, talipes, polydactyly, contractures, diaphragmatic hernia |
Musculoskeletal: scoliosis |
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Neurological |
Neurological: NTDs, cerebral palsy, seizures (neurologists only?) |
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Genitourinary: ambiguous genitalia, hypospadias, cryptorchidism, kidney malformation |
Genitourinary: hydronephrosis, ureteral obstruction |
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Endocrine Findings |
Learning Disability |
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Cutaneous findings |
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FOLLOW-UP TO ABNORMAL MICROARRAY (Please refer to the proband’s Microarray report)
- Targeted microarray analysis, MLPA, or other targeted molecular testing:
- 3 ml peripheral blood (EDTA) from both biological parents
- Chromosome Analysis
- 3 ml peripheral blood (sodium heparin) from both biological parents
AND - 2 ml peripheral blood (sodium heparin) from proband
- 3 ml peripheral blood (sodium heparin) from both biological parents
Please note that familial testing on biological parents must be ordered by Genetics only.
Fragile X – Clinical Criteria
Current testing criteria for Fragile X, based on the 2023 position statement from the CCMG regarding investigations for neurodevelopmental disorders (PMID: 36822643), are met under the following conditions.
- A patient presenting with global developmental delay (GDD), intellectual disability (ID) and/or autism in combination with other features such as macroorchidism, macrocephaly, facial features (large ears, long face, tall forehead, high-arched palate, prominent jaw), and/or connective tissue findings (velvety skin, redundant skin on dorsum of hands, hyperextensible joints, pes planus and mitral valve prolapse). Documentation of the additional features must be included on the requisition.
- A patient with GDD, ID and/or autism with a maternal family history that includes GDD, ID or autism in males and/or females, females with premature menopause or ovarian insufficiency, and males or females with adult-onset tremor, ataxia or parkinsonism. Family history information demonstrating that this criterion is met must be included on the requisition.