If you are an external healthcare provider with no access to Nationwide Children’s Epic system, submission of a completed Genetic Test Requisition Form is required. If you are an internal ordering provider with access to Nationwide Children’s Epic system, no requisition form is required; please place the lab order electronically in Epic.  

Although a blood sample is the preferred sample type, saliva and buccal samples are also accepted for this test.

This chromosomal microarray analysis evaluates for DNA copy number abnormalities (genomic losses and gains) and large regions of homozygosity (ROH) across the genome. This SNP microarray analysis contains approximately 850k empirically selected single nucleotide polymorphisms (SNPs) spanning the genome with enriched disease-focused coverage for 3262 dosage-sensitive genes.  This enhanced SNP coverage has an average spacing of one probe every 5kb throughout the genome and one probe every 1 kb in regions associated with genetic disease. CNV calls are based on approximately 10 contiguous probes.

This test can detect submicroscopic genomic losses and gains not detectable by routine chromosome analysis (e.g. 22q11.21 microdeletion for DiGeorge syndrome, submicroscopic unbalanced translocations, etc), as well as large imbalances detectable by routine chromosome analysis (e.g. loss or gain of entire chromosome, large unbalanced translocations/inversions). Genomic loss or gain of certain chromosomal region is known to cause or predispose to phenotypic abnormality. Some genomic loss or gain may have unknown clinical significance at this time. Copy number changes less than 100 kb for deletions and less than 200 kb for gains may not be reported. All findings will be analyzed and reported using Genome build GRCh38.

Presence of ROH is not diagnostic of any disorder, but it can suggest increased risk for two different classes of genetic disorders: disorders of imprinting (uniparental disomy; UPD) and recessive genetic disorders. Evidence suggestive of a blood relationship between the parents (parental consanguinity) also may be revealed. If parental consanguinity is known, please provide reported parental relationship information on the requisition form.

PLEASE NOTE: Microarray analysis may not be able to detect the presence of mosaicism if abnormality is present in less than 30% of cells. Microarray analysis cannot detect balanced chromosomal rearrangements, such as a balanced translocation, balanced inversion, and balanced insertion.

If you are an external healthcare provider with no access to Nationwide Children’s Epic system, submission of a completed Genetic Test Requisition Form is required. If you are an internal ordering provider with access to Nationwide Children’s Epic system, no requisition form is required; please place the lab order electronically in Epic.  

Although a blood sample is the preferred sample type, saliva and buccal samples are also accepted for this test.

This chromosomal microarray analysis evaluates for DNA copy number abnormalities (genomic losses and gains) and large regions of homozygosity (ROH) across the genome. This SNP microarray analysis contains approximately 850k empirically selected single nucleotide polymorphisms (SNPs) spanning the genome with enriched disease-focused coverage for 3262 dosage-sensitive genes.  This enhanced SNP coverage has an average spacing of one probe every 5kb throughout the genome and one probe every 1 kb in regions associated with genetic disease. CNV calls are based on approximately 10 contiguous probes.

This test can detect submicroscopic genomic losses and gains not detectable by routine chromosome analysis (e.g. 22q11.21 microdeletion for DiGeorge syndrome, submicroscopic unbalanced translocations, etc), as well as large imbalances detectable by routine chromosome analysis (e.g. loss or gain of entire chromosome, large unbalanced translocations/inversions). Genomic loss or gain of certain chromosomal region is known to cause or predispose to phenotypic abnormality. Some genomic loss or gain may have unknown clinical significance at this time. Copy number changes less than 100 kb for deletions and less than 200 kb for gains may not be reported. All findings will be analyzed and reported using Genome build GRCh38.

Presence of ROH is not diagnostic of any disorder, but it can suggest increased risk for two different classes of genetic disorders: disorders of imprinting (uniparental disomy; UPD) and recessive genetic disorders. Evidence suggestive of a blood relationship between the parents (parental consanguinity) also may be revealed. If parental consanguinity is known, please provide reported parental relationship information on the requisition form.

PLEASE NOTE: Microarray analysis may not be able to detect the presence of mosaicism if abnormality is present in less than 30% of cells. Microarray analysis cannot detect balanced chromosomal rearrangements, such as a balanced translocation, balanced inversion, and balanced insertion.

This chromosomal microarray analysis evaluates for DNA copy number abnormalities (genomic losses and gains) and large regions of homozygosity (ROH) across the genome. This SNP microarray analysis contains approximately 850k empirically selected single nucleotide polymorphisms (SNPs) spanning the genome with enriched disease-focused coverage for 3262 dosage-sensitive genes.  This enhanced SNP coverage has an average spacing of one probe every 5kb throughout the genome and one probe every 1 kb in regions associated with genetic disease. CNV calls are based on approximately 10 contiguous probes.

This test can detect submicroscopic genomic losses and gains not detectable by routine chromosome analysis (e.g. 22q11.21 microdeletion for DiGeorge syndrome, submicroscopic unbalanced translocations, etc), as well as large imbalances detectable by routine chromosome analysis (e.g. loss or gain of entire chromosome, large unbalanced translocations/inversions). Genomic loss or gain of certain chromosomal region is known to cause or predispose to phenotypic abnormality. Some genomic loss or gain may have unknown clinical significance at this time. Copy number changes less than 100 kb for deletions and less than 200 kb for gains may not be reported. All findings will be analyzed and reported using Genome build GRCh38.

Presence of ROH is not diagnostic of any disorder, but it can suggest increased risk for two different classes of genetic disorders: disorders of imprinting (uniparental disomy; UPD) and recessive genetic disorders. Evidence suggestive of a blood relationship between the parents (parental consanguinity) also may be revealed. If parental consanguinity is known, please provide reported parental relationship information on the requisition form.

PLEASE NOTE: Microarray analysis may not be able to detect the presence of mosaicism if abnormality is present in less than 30% of cells. Microarray analysis cannot detect balanced chromosomal rearrangements, such as a balanced translocation, balanced inversion, and balanced insertion.

If you are an external healthcare provider with no access to Nationwide Children’s Epic system, submission of a completed Genetic Test Requisition Form is required. If you are an internal ordering provider with access to Nationwide Children’s Epic system, no requisition form is required; please place the lab order electronically in Epic.  

Although a blood sample is the preferred sample type, saliva and buccal samples are also accepted for this test.

This chromosomal microarray analysis evaluates for DNA copy number abnormalities (genomic losses and gains) and large regions of homozygosity (ROH) across the genome. This SNP microarray analysis contains approximately 850k empirically selected single nucleotide polymorphisms (SNPs) spanning the genome with enriched disease-focused coverage for 3262 dosage-sensitive genes.  This enhanced SNP coverage has an average spacing of one probe every 5kb throughout the genome and one probe every 1 kb in regions associated with genetic disease. CNV calls are based on approximately 10 contiguous probes.

This test can detect submicroscopic genomic losses and gains not detectable by routine chromosome analysis (e.g. 22q11.21 microdeletion for DiGeorge syndrome, submicroscopic unbalanced translocations, etc), as well as large imbalances detectable by routine chromosome analysis (e.g. loss or gain of entire chromosome, large unbalanced translocations/inversions). Genomic loss or gain of certain chromosomal region is known to cause or predispose to phenotypic abnormality. Some genomic loss or gain may have unknown clinical significance at this time. Copy number changes less than 100 kb for deletions and less than 200 kb for gains may not be reported. All findings will be analyzed and reported using Genome build GRCh38.

Presence of ROH is not diagnostic of any disorder, but it can suggest increased risk for two different classes of genetic disorders: disorders of imprinting (uniparental disomy; UPD) and recessive genetic disorders. Evidence suggestive of a blood relationship between the parents (parental consanguinity) also may be revealed. If parental consanguinity is known, please provide reported parental relationship information on the requisition form.

PLEASE NOTE: Microarray analysis may not be able to detect the presence of mosaicism if abnormality is present in less than 30% of cells. Microarray analysis cannot detect balanced chromosomal rearrangements, such as a balanced translocation, balanced inversion, and balanced insertion.