| Specimen Type | Type of Container | Volume of Specimen | Status |
|---|---|---|---|
| Whole blood | 4 mL Purple tube (EDTA) | 4 mL-8 mL | Preferred |
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; please click on the Lab Form link at the bottom of this page to access the form. 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. For questions, please call (614) 722-5321.
This test is a SNRPN methylation-specific PCR analysis, and it tests for the presence/absence of maternally-imprinted SNPRPN copy and paternally-imprinted SNRPN copy. This test detects over 99% of Prader-Willi syndrome cases and about 80% of Angelman syndrome cases, including those cases where methylation abnormality is due to deletion, uniparental disomy (UPD), and imprinting center defects.
Prader-Willi syndrome (PWS)/Angelman syndrome (AS) critical region is located within chromosome band 15q11.2-q13 that includes the SNRPN gene. This region is differentially imprinted, with normal individuals having one maternally-imprinted copy and one paternally-imprinted copy of this region. Over 99% of Prader-Willi syndrome is caused by an absence of expression of imprinted genes in the paternally-derived PWS/AS region, and about 80% of Angelman syndrome is caused by an absence of expression of imprinted genes in the maternally-derived PWS/AS region.
If methylation result is abnormal, then additional genetic testing is available to determine the underlying cause of methylation abnormality [e.g. microarray or FISH analysis to test for chromosome 15q11.2-q13 deletion (see test codes SNPMA and FISHON) and/or chromosome 15 UPD analysis (sent out to an external reference laboratory)]. In cases of suspected Angelman syndrome, if methylation result from this test is normal, then reflex to UBE3A gene sequencing is available (sent out to an external reference laboratory).
| Specimen Type | Type of Container | Volume of Specimen | Status |
|---|---|---|---|
| Whole blood | 4 mL Purple tube (EDTA) | 4 mL-8 mL | Preferred |
| Specimen Type | Type of Container | Minimum Volume |
|---|---|---|
| Whole blood | 4 mL Purple tube (EDTA) | 3 mL |
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; please click on the Lab Form link at the bottom of this page to access the form. 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. For questions, please call (614) 722-5321.
This test is a SNRPN methylation-specific PCR analysis, and it tests for the presence/absence of maternally-imprinted SNPRPN copy and paternally-imprinted SNRPN copy. This test detects over 99% of Prader-Willi syndrome cases and about 80% of Angelman syndrome cases, including those cases where methylation abnormality is due to deletion, uniparental disomy (UPD), and imprinting center defects.
Prader-Willi syndrome (PWS)/Angelman syndrome (AS) critical region is located within chromosome band 15q11.2-q13 that includes the SNRPN gene. This region is differentially imprinted, with normal individuals having one maternally-imprinted copy and one paternally-imprinted copy of this region. Over 99% of Prader-Willi syndrome is caused by an absence of expression of imprinted genes in the paternally-derived PWS/AS region, and about 80% of Angelman syndrome is caused by an absence of expression of imprinted genes in the maternally-derived PWS/AS region.
If methylation result is abnormal, then additional genetic testing is available to determine the underlying cause of methylation abnormality [e.g. microarray or FISH analysis to test for chromosome 15q11.2-q13 deletion (see test codes SNPMA and FISHON) and/or chromosome 15 UPD analysis (sent out to an external reference laboratory)]. In cases of suspected Angelman syndrome, if methylation result from this test is normal, then reflex to UBE3A gene sequencing is available (sent out to an external reference laboratory).
This test is a SNRPN methylation-specific PCR analysis, and it tests for the presence/absence of maternally-imprinted SNPRPN copy and paternally-imprinted SNRPN copy. This test detects over 99% of Prader-Willi syndrome cases and about 80% of Angelman syndrome cases, including those cases where methylation abnormality is due to deletion, uniparental disomy (UPD), and imprinting center defects.
Prader-Willi syndrome (PWS)/Angelman syndrome (AS) critical region is located within chromosome band 15q11.2-q13 that includes the SNRPN gene. This region is differentially imprinted, with normal individuals having one maternally-imprinted copy and one paternally-imprinted copy of this region. Over 99% of Prader-Willi syndrome is caused by an absence of expression of imprinted genes in the paternally-derived PWS/AS region, and about 80% of Angelman syndrome is caused by an absence of expression of imprinted genes in the maternally-derived PWS/AS region.
If methylation result is abnormal, then additional genetic testing is available to determine the underlying cause of methylation abnormality [e.g. microarray or FISH analysis to test for chromosome 15q11.2-q13 deletion (see test codes SNPMA and FISHON) and/or chromosome 15 UPD analysis (sent out to an external reference laboratory)]. In cases of suspected Angelman syndrome, if methylation result from this test is normal, then reflex to UBE3A gene sequencing is available (sent out to an external reference laboratory).
| Specimen Type | Type of Container | Volume of Specimen | Status |
|---|---|---|---|
| Whole blood | 4 mL Purple tube (EDTA) | 4 mL-8 mL | Preferred |
| Specimen Type | Type of Container | Minimum Volume |
|---|---|---|
| Whole blood | 4 mL Purple tube (EDTA) | 3 mL |
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; please click on the Lab Form link at the bottom of this page to access the form. 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. For questions, please call (614) 722-5321.
This test is a SNRPN methylation-specific PCR analysis, and it tests for the presence/absence of maternally-imprinted SNPRPN copy and paternally-imprinted SNRPN copy. This test detects over 99% of Prader-Willi syndrome cases and about 80% of Angelman syndrome cases, including those cases where methylation abnormality is due to deletion, uniparental disomy (UPD), and imprinting center defects.
Prader-Willi syndrome (PWS)/Angelman syndrome (AS) critical region is located within chromosome band 15q11.2-q13 that includes the SNRPN gene. This region is differentially imprinted, with normal individuals having one maternally-imprinted copy and one paternally-imprinted copy of this region. Over 99% of Prader-Willi syndrome is caused by an absence of expression of imprinted genes in the paternally-derived PWS/AS region, and about 80% of Angelman syndrome is caused by an absence of expression of imprinted genes in the maternally-derived PWS/AS region.
If methylation result is abnormal, then additional genetic testing is available to determine the underlying cause of methylation abnormality [e.g. microarray or FISH analysis to test for chromosome 15q11.2-q13 deletion (see test codes SNPMA and FISHON) and/or chromosome 15 UPD analysis (sent out to an external reference laboratory)]. In cases of suspected Angelman syndrome, if methylation result from this test is normal, then reflex to UBE3A gene sequencing is available (sent out to an external reference laboratory).
| Outpatient Requirements |
| Specimen Type | Type of Container | Volume of Specimen | Status |
|---|---|---|---|
| Whole blood | 4 mL Purple tube (EDTA) | 4 mL-8 mL | Preferred |
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; please click on the Lab Form link at the bottom of this page to access the form. 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. For questions, please call (614) 722-5321.
This test is a SNRPN methylation-specific PCR analysis, and it tests for the presence/absence of maternally-imprinted SNPRPN copy and paternally-imprinted SNRPN copy. This test detects over 99% of Prader-Willi syndrome cases and about 80% of Angelman syndrome cases, including those cases where methylation abnormality is due to deletion, uniparental disomy (UPD), and imprinting center defects.
Prader-Willi syndrome (PWS)/Angelman syndrome (AS) critical region is located within chromosome band 15q11.2-q13 that includes the SNRPN gene. This region is differentially imprinted, with normal individuals having one maternally-imprinted copy and one paternally-imprinted copy of this region. Over 99% of Prader-Willi syndrome is caused by an absence of expression of imprinted genes in the paternally-derived PWS/AS region, and about 80% of Angelman syndrome is caused by an absence of expression of imprinted genes in the maternally-derived PWS/AS region.
If methylation result is abnormal, then additional genetic testing is available to determine the underlying cause of methylation abnormality [e.g. microarray or FISH analysis to test for chromosome 15q11.2-q13 deletion (see test codes SNPMA and FISHON) and/or chromosome 15 UPD analysis (sent out to an external reference laboratory)]. In cases of suspected Angelman syndrome, if methylation result from this test is normal, then reflex to UBE3A gene sequencing is available (sent out to an external reference laboratory).
| Inpatient Requirements |
| Specimen Type | Type of Container | Volume of Specimen | Status |
|---|---|---|---|
| Whole blood | 4 mL Purple tube (EDTA) | 4 mL-8 mL | Preferred |
| Specimen Type | Type of Container | Minimum Volume |
|---|---|---|
| Whole blood | 4 mL Purple tube (EDTA) | 3 mL |
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; please click on the Lab Form link at the bottom of this page to access the form. 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. For questions, please call (614) 722-5321.
This test is a SNRPN methylation-specific PCR analysis, and it tests for the presence/absence of maternally-imprinted SNPRPN copy and paternally-imprinted SNRPN copy. This test detects over 99% of Prader-Willi syndrome cases and about 80% of Angelman syndrome cases, including those cases where methylation abnormality is due to deletion, uniparental disomy (UPD), and imprinting center defects.
Prader-Willi syndrome (PWS)/Angelman syndrome (AS) critical region is located within chromosome band 15q11.2-q13 that includes the SNRPN gene. This region is differentially imprinted, with normal individuals having one maternally-imprinted copy and one paternally-imprinted copy of this region. Over 99% of Prader-Willi syndrome is caused by an absence of expression of imprinted genes in the paternally-derived PWS/AS region, and about 80% of Angelman syndrome is caused by an absence of expression of imprinted genes in the maternally-derived PWS/AS region.
If methylation result is abnormal, then additional genetic testing is available to determine the underlying cause of methylation abnormality [e.g. microarray or FISH analysis to test for chromosome 15q11.2-q13 deletion (see test codes SNPMA and FISHON) and/or chromosome 15 UPD analysis (sent out to an external reference laboratory)]. In cases of suspected Angelman syndrome, if methylation result from this test is normal, then reflex to UBE3A gene sequencing is available (sent out to an external reference laboratory).
| Overview/Billing |
| Interpretation |
This test is a SNRPN methylation-specific PCR analysis, and it tests for the presence/absence of maternally-imprinted SNPRPN copy and paternally-imprinted SNRPN copy. This test detects over 99% of Prader-Willi syndrome cases and about 80% of Angelman syndrome cases, including those cases where methylation abnormality is due to deletion, uniparental disomy (UPD), and imprinting center defects.
Prader-Willi syndrome (PWS)/Angelman syndrome (AS) critical region is located within chromosome band 15q11.2-q13 that includes the SNRPN gene. This region is differentially imprinted, with normal individuals having one maternally-imprinted copy and one paternally-imprinted copy of this region. Over 99% of Prader-Willi syndrome is caused by an absence of expression of imprinted genes in the paternally-derived PWS/AS region, and about 80% of Angelman syndrome is caused by an absence of expression of imprinted genes in the maternally-derived PWS/AS region.
If methylation result is abnormal, then additional genetic testing is available to determine the underlying cause of methylation abnormality [e.g. microarray or FISH analysis to test for chromosome 15q11.2-q13 deletion (see test codes SNPMA and FISHON) and/or chromosome 15 UPD analysis (sent out to an external reference laboratory)]. In cases of suspected Angelman syndrome, if methylation result from this test is normal, then reflex to UBE3A gene sequencing is available (sent out to an external reference laboratory).
| NCH Lab Only |
| Specimen Type | Type of Container | Volume of Specimen | Status |
|---|---|---|---|
| Whole blood | 4 mL Purple tube (EDTA) | 4 mL-8 mL | Preferred |
| Specimen Type | Type of Container | Minimum Volume |
|---|---|---|
| Whole blood | 4 mL Purple tube (EDTA) | 3 mL |
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; please click on the Lab Form link at the bottom of this page to access the form. 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. For questions, please call (614) 722-5321.
This test is a SNRPN methylation-specific PCR analysis, and it tests for the presence/absence of maternally-imprinted SNPRPN copy and paternally-imprinted SNRPN copy. This test detects over 99% of Prader-Willi syndrome cases and about 80% of Angelman syndrome cases, including those cases where methylation abnormality is due to deletion, uniparental disomy (UPD), and imprinting center defects.
Prader-Willi syndrome (PWS)/Angelman syndrome (AS) critical region is located within chromosome band 15q11.2-q13 that includes the SNRPN gene. This region is differentially imprinted, with normal individuals having one maternally-imprinted copy and one paternally-imprinted copy of this region. Over 99% of Prader-Willi syndrome is caused by an absence of expression of imprinted genes in the paternally-derived PWS/AS region, and about 80% of Angelman syndrome is caused by an absence of expression of imprinted genes in the maternally-derived PWS/AS region.
If methylation result is abnormal, then additional genetic testing is available to determine the underlying cause of methylation abnormality [e.g. microarray or FISH analysis to test for chromosome 15q11.2-q13 deletion (see test codes SNPMA and FISHON) and/or chromosome 15 UPD analysis (sent out to an external reference laboratory)]. In cases of suspected Angelman syndrome, if methylation result from this test is normal, then reflex to UBE3A gene sequencing is available (sent out to an external reference laboratory).
