Specimen Type | Type of Container | Volume of Specimen | Status |
---|---|---|---|
Tissue (Fresh) | Tissue culture transport media | Preferred | |
Tissue (Fresh) | Sterile container with saline | Alternate | |
Whole blood-MCC studies | 4 mL Purple tube (EDTA) | 4 mL-maternal sample | Preferred |
Buccal swab-MCC studies | Buccal swab kit | 4 swabs | Alternate |
Saliva-MCC studies | Oragene saliva collection kit | 2 tubes | Alternate |
Completed Products of Conception (POC) Requisition Form is required. Please submit POC tissue sample in a sterile container containing tissue transport media or sterile saline. Testing can be performed on fresh tissue sample, frozen POC tissue sample, or on cultured cells from the submitted tissue sample. Formalin-fixed tissue sample is currently NOT accepted for this test. Submission of maternal blood sample is NOT required, although it is recommended to perform maternal cell contamination study. If the mother and the father of pregnancy are known to be consanguineous, please provide reported parental relationship information on the requisition form.
While many factors contribute to pregnancy loss and fetal demise (including maternal conditions, environmental exposures, and fetal abnormalities), a chromosome abnormality is present in greater than 50% of first trimester losses and about 20% of second-trimester losses. Determining the cause of a loss could have important implications for evaluating recurrence risk for future pregnancies and future obstetrical management.
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 1 Mb for deletions and less than 2 Mb 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.
Specimen Type | Type of Container | Volume of Specimen | Status |
---|---|---|---|
Tissue (Fresh) | Tissue culture transport media | Preferred | |
Tissue (Fresh) | Sterile container with saline | Alternate | |
Whole blood-MCC studies | 4 mL Purple tube (EDTA) | 4 mL-maternal sample | Preferred |
Buccal swab-MCC studies | Buccal swab kit | 4 swabs | Alternate |
Saliva-MCC studies | Oragene saliva collection kit | 2 tubes | Alternate |
Specimen Type | Type of Container | Minimum Volume |
---|---|---|
Tissue (Fresh) | Tissue culture transport media | |
Tissue (Fresh) | Sterile container with saline | |
Whole blood-MCC studies | 4 mL Purple tube (EDTA) | 2 mL maternal sample |
Buccal swab-MCC studies | Buccal swab kit | 2 swabs |
Saliva-MCC studies | Oragene saliva collection kit | 1 tube |
Completed Products of Conception (POC) Requisition Form is required. Please submit POC tissue sample in a sterile container containing tissue transport media or sterile saline. Testing can be performed on fresh tissue sample, frozen POC tissue sample, or on cultured cells from the submitted tissue sample. Formalin-fixed tissue sample is currently NOT accepted for this test. Submission of maternal blood sample is NOT required, although it is recommended to perform maternal cell contamination study. If the mother and the father of pregnancy are known to be consanguineous, please provide reported parental relationship information on the requisition form.
While many factors contribute to pregnancy loss and fetal demise (including maternal conditions, environmental exposures, and fetal abnormalities), a chromosome abnormality is present in greater than 50% of first trimester losses and about 20% of second-trimester losses. Determining the cause of a loss could have important implications for evaluating recurrence risk for future pregnancies and future obstetrical management.
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 1 Mb for deletions and less than 2 Mb 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.
While many factors contribute to pregnancy loss and fetal demise (including maternal conditions, environmental exposures, and fetal abnormalities), a chromosome abnormality is present in greater than 50% of first trimester losses and about 20% of second-trimester losses. Determining the cause of a loss could have important implications for evaluating recurrence risk for future pregnancies and future obstetrical management.
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 1 Mb for deletions and less than 2 Mb 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.
Specimen Type | Type of Container | Volume of Specimen | Status |
---|---|---|---|
Tissue (Fresh) | Tissue culture transport media | Preferred | |
Tissue (Fresh) | Sterile container with saline | Alternate | |
Whole blood-MCC studies | 4 mL Purple tube (EDTA) | 4 mL-maternal sample | Preferred |
Buccal swab-MCC studies | Buccal swab kit | 4 swabs | Alternate |
Saliva-MCC studies | Oragene saliva collection kit | 2 tubes | Alternate |
Specimen Type | Type of Container | Minimum Volume |
---|---|---|
Tissue (Fresh) | Tissue culture transport media | |
Tissue (Fresh) | Sterile container with saline | |
Whole blood-MCC studies | 4 mL Purple tube (EDTA) | 2 mL maternal sample |
Buccal swab-MCC studies | Buccal swab kit | 2 swabs |
Saliva-MCC studies | Oragene saliva collection kit | 1 tube |
Completed Products of Conception (POC) Requisition Form is required. Please submit POC tissue sample in a sterile container containing tissue transport media or sterile saline. Testing can be performed on fresh tissue sample, frozen POC tissue sample, or on cultured cells from the submitted tissue sample. Formalin-fixed tissue sample is currently NOT accepted for this test. Submission of maternal blood sample is NOT required, although it is recommended to perform maternal cell contamination study. If the mother and the father of pregnancy are known to be consanguineous, please provide reported parental relationship information on the requisition form.
While many factors contribute to pregnancy loss and fetal demise (including maternal conditions, environmental exposures, and fetal abnormalities), a chromosome abnormality is present in greater than 50% of first trimester losses and about 20% of second-trimester losses. Determining the cause of a loss could have important implications for evaluating recurrence risk for future pregnancies and future obstetrical management.
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 1 Mb for deletions and less than 2 Mb 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.
Outpatient Requirements |
Specimen Type | Type of Container | Volume of Specimen | Status |
---|---|---|---|
Tissue (Fresh) | Tissue culture transport media | Preferred | |
Tissue (Fresh) | Sterile container with saline | Alternate | |
Whole blood-MCC studies | 4 mL Purple tube (EDTA) | 4 mL-maternal sample | Preferred |
Buccal swab-MCC studies | Buccal swab kit | 4 swabs | Alternate |
Saliva-MCC studies | Oragene saliva collection kit | 2 tubes | Alternate |
Completed Products of Conception (POC) Requisition Form is required. Please submit POC tissue sample in a sterile container containing tissue transport media or sterile saline. Testing can be performed on fresh tissue sample, frozen POC tissue sample, or on cultured cells from the submitted tissue sample. Formalin-fixed tissue sample is currently NOT accepted for this test. Submission of maternal blood sample is NOT required, although it is recommended to perform maternal cell contamination study. If the mother and the father of pregnancy are known to be consanguineous, please provide reported parental relationship information on the requisition form.
While many factors contribute to pregnancy loss and fetal demise (including maternal conditions, environmental exposures, and fetal abnormalities), a chromosome abnormality is present in greater than 50% of first trimester losses and about 20% of second-trimester losses. Determining the cause of a loss could have important implications for evaluating recurrence risk for future pregnancies and future obstetrical management.
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 1 Mb for deletions and less than 2 Mb 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.
Inpatient Requirements |
Specimen Type | Type of Container | Volume of Specimen | Status |
---|---|---|---|
Tissue (Fresh) | Tissue culture transport media | Preferred | |
Tissue (Fresh) | Sterile container with saline | Alternate | |
Whole blood-MCC studies | 4 mL Purple tube (EDTA) | 4 mL-maternal sample | Preferred |
Buccal swab-MCC studies | Buccal swab kit | 4 swabs | Alternate |
Saliva-MCC studies | Oragene saliva collection kit | 2 tubes | Alternate |
Specimen Type | Type of Container | Minimum Volume |
---|---|---|
Tissue (Fresh) | Tissue culture transport media | |
Tissue (Fresh) | Sterile container with saline | |
Whole blood-MCC studies | 4 mL Purple tube (EDTA) | 2 mL maternal sample |
Buccal swab-MCC studies | Buccal swab kit | 2 swabs |
Saliva-MCC studies | Oragene saliva collection kit | 1 tube |
Completed Products of Conception (POC) Requisition Form is required. Please submit POC tissue sample in a sterile container containing tissue transport media or sterile saline. Testing can be performed on fresh tissue sample, frozen POC tissue sample, or on cultured cells from the submitted tissue sample. Formalin-fixed tissue sample is currently NOT accepted for this test. Submission of maternal blood sample is NOT required, although it is recommended to perform maternal cell contamination study. If the mother and the father of pregnancy are known to be consanguineous, please provide reported parental relationship information on the requisition form.
While many factors contribute to pregnancy loss and fetal demise (including maternal conditions, environmental exposures, and fetal abnormalities), a chromosome abnormality is present in greater than 50% of first trimester losses and about 20% of second-trimester losses. Determining the cause of a loss could have important implications for evaluating recurrence risk for future pregnancies and future obstetrical management.
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 1 Mb for deletions and less than 2 Mb 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.
Overview/Billing |
Interpretation |
While many factors contribute to pregnancy loss and fetal demise (including maternal conditions, environmental exposures, and fetal abnormalities), a chromosome abnormality is present in greater than 50% of first trimester losses and about 20% of second-trimester losses. Determining the cause of a loss could have important implications for evaluating recurrence risk for future pregnancies and future obstetrical management.
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 1 Mb for deletions and less than 2 Mb 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.
NCH Lab Only |
Specimen Type | Type of Container | Volume of Specimen | Status |
---|---|---|---|
Tissue (Fresh) | Tissue culture transport media | Preferred | |
Tissue (Fresh) | Sterile container with saline | Alternate | |
Whole blood-MCC studies | 4 mL Purple tube (EDTA) | 4 mL-maternal sample | Preferred |
Buccal swab-MCC studies | Buccal swab kit | 4 swabs | Alternate |
Saliva-MCC studies | Oragene saliva collection kit | 2 tubes | Alternate |
Specimen Type | Type of Container | Minimum Volume |
---|---|---|
Tissue (Fresh) | Tissue culture transport media | |
Tissue (Fresh) | Sterile container with saline | |
Whole blood-MCC studies | 4 mL Purple tube (EDTA) | 2 mL maternal sample |
Buccal swab-MCC studies | Buccal swab kit | 2 swabs |
Saliva-MCC studies | Oragene saliva collection kit | 1 tube |
Completed Products of Conception (POC) Requisition Form is required. Please submit POC tissue sample in a sterile container containing tissue transport media or sterile saline. Testing can be performed on fresh tissue sample, frozen POC tissue sample, or on cultured cells from the submitted tissue sample. Formalin-fixed tissue sample is currently NOT accepted for this test. Submission of maternal blood sample is NOT required, although it is recommended to perform maternal cell contamination study. If the mother and the father of pregnancy are known to be consanguineous, please provide reported parental relationship information on the requisition form.
While many factors contribute to pregnancy loss and fetal demise (including maternal conditions, environmental exposures, and fetal abnormalities), a chromosome abnormality is present in greater than 50% of first trimester losses and about 20% of second-trimester losses. Determining the cause of a loss could have important implications for evaluating recurrence risk for future pregnancies and future obstetrical management.
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 1 Mb for deletions and less than 2 Mb 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.