Collect

A total of 2 tubes needed; 3-4 mL of whole peripheral blood in Dark Green top Sodium Heparin tube AND 3-4 mL of whole peripheral blood in a Lavender top EDTA tube. 

Collection personnel MUST initial specimen container to confirm sample identity.

Minimum Collection Volume

A total of 2 tubes are needed; 3-4 mL of peripheral blood in Dark Green top Sodium Heparin tube AND 3-4 mL of peripheral blood in a Lavender top EDTA tube. 

If a lesser volume of sample listed above is sent, the laboratory will attempt to perform the test requested.  The laboratory cannot assure either a result and/or the ability to perform repeat testing and/or additional testing if the minimum volumes are not met.

Acceptable Specimen Collect Alternatives

ACD (Yellow) top blood tube is not preferred but acceptable.

Patient Preparation

This is a TESTING ALGORITHM for neurodevelopmental disorders.  This is a suggested order for when and how to perform testing that meets with our best practice policy.

The order of this reflex testing is determined by the patient’s sex and head size. All patients will first have a SNP Microarray followed by Fragile X testing. All patients with macrocephaly will then proceed to PTEN sequencing. Males without macrocephaly will stop testing, and females without macrocephaly will proceed to MECP2 sequencing.

If a positive result is found in any step of this reflex algorithm, testing will not proceed further.

Specimen Preparation

Label tubes with patient name and date of birth (DOB). Do not centrifuge (spin) tubes.

Storage/Transport Temperature

Store at room temperature / Use overnight shipping (protect from temperature extremes, no ice) or call the lab for local courier service (contact laboratory prior to drawing specimen to ensure courier area coverage).

Performing Lab

Division of Human Genetics Diagnostic Laboratories (513) 636-4474 / FAX: (513) 636-4373

Performed

6 AM - 12 AM (Monday through Friday, with more limited hours on the weekend)

Ordering Recommendations

This testing algorithm can be used for the genetic evaluation of developmental delays, intellectual disability, and/or autism spectrum disorders of unknown etiology.

Reflex Testing

The order of this reflex testing is determined by the patient’s sex and head size. All patients will first have a SNP Microarray followed by Fragile X testing. All patients with macrocephaly will then proceed to PTEN sequencing. Males without macrocephaly will stop testing, and females without macrocephaly will proceed to MECP2 sequencing. If a positive result is found in any step of this reflex, testing will not proceed further.

Methodology

SNP Microarray: performed using a SNP based microarray chip with over approximately 840,000 markers. This test is designed to identify chromosomal imbalances throughout the human genome including deletions, duplications, aneuploidy, and region of homozygosity. Our laboratory has established criteria for reporting abnormalities based on size, gene content, and clinical significance.

Fragile X testing: performed using polymerase chain reaction (PCR) and Southern blot. DNA extracted from peripheral white blood cells is analyzed by PCR. The PCR fragment is designed to flank the area of repeats and effectively alters the size of the PCR product correspondingly to the repeat size. The DNA is also subjected to Southern blot hybridization to analyze for fragments containing greater than 200 repeats (i.e. full mutations).

PTEN gene sequencing: performed using PCR-based Sanger sequencing of the entire coding regions and intron/exon boundaries of the PTEN gene.

MECP2 gene sequencing: performed using PCR-based Sanger sequencing of the coding regions and their exon/intron boundaries of the MECP2 gene.
 

Reported

Each of the following results (if reflexed) will be sent out in a separate final report:
SNP Microarray: 3 weeks
Fragile X testing: 2 weeks
PTEN gene sequencing: 4 weeks
MECP2 gene sequencing: 4 weeks
Please be advised that insurance pre-authorization may delay reporting timelines.


 

CPT Codes

SNP Microarray: 81229

Fragile X testing: 81243, 81244

PTEN sequencing: 81321

MECP2 sequencing: 81302

 

Please call 1-866-450-4198 for pricing or with any billing questions.

Collection

Collect

A total of 2 tubes needed; 3-4 mL of whole peripheral blood in Dark Green top Sodium Heparin tube AND 3-4 mL of whole peripheral blood in a Lavender top EDTA tube. 

Collection personnel MUST initial specimen container to confirm sample identity.

Minimum Collection Volume

A total of 2 tubes are needed; 3-4 mL of peripheral blood in Dark Green top Sodium Heparin tube AND 3-4 mL of peripheral blood in a Lavender top EDTA tube. 

If a lesser volume of sample listed above is sent, the laboratory will attempt to perform the test requested.  The laboratory cannot assure either a result and/or the ability to perform repeat testing and/or additional testing if the minimum volumes are not met.

Acceptable Specimen Collect Alternatives

ACD (Yellow) top blood tube is not preferred but acceptable.

Patient Preparation

This is a TESTING ALGORITHM for neurodevelopmental disorders.  This is a suggested order for when and how to perform testing that meets with our best practice policy.

The order of this reflex testing is determined by the patient’s sex and head size. All patients will first have a SNP Microarray followed by Fragile X testing. All patients with macrocephaly will then proceed to PTEN sequencing. Males without macrocephaly will stop testing, and females without macrocephaly will proceed to MECP2 sequencing.

If a positive result is found in any step of this reflex algorithm, testing will not proceed further.

Specimen Preparation

Label tubes with patient name and date of birth (DOB). Do not centrifuge (spin) tubes.

Storage/Transport Temperature

Store at room temperature / Use overnight shipping (protect from temperature extremes, no ice) or call the lab for local courier service (contact laboratory prior to drawing specimen to ensure courier area coverage).

Performing Lab

Division of Human Genetics Diagnostic Laboratories (513) 636-4474 / FAX: (513) 636-4373

Performed

6 AM - 12 AM (Monday through Friday, with more limited hours on the weekend)

Ordering

Ordering Recommendations

This testing algorithm can be used for the genetic evaluation of developmental delays, intellectual disability, and/or autism spectrum disorders of unknown etiology.

Reflex Testing

The order of this reflex testing is determined by the patient’s sex and head size. All patients will first have a SNP Microarray followed by Fragile X testing. All patients with macrocephaly will then proceed to PTEN sequencing. Males without macrocephaly will stop testing, and females without macrocephaly will proceed to MECP2 sequencing. If a positive result is found in any step of this reflex, testing will not proceed further.

Methodology

SNP Microarray: performed using a SNP based microarray chip with over approximately 840,000 markers. This test is designed to identify chromosomal imbalances throughout the human genome including deletions, duplications, aneuploidy, and region of homozygosity. Our laboratory has established criteria for reporting abnormalities based on size, gene content, and clinical significance.

Fragile X testing: performed using polymerase chain reaction (PCR) and Southern blot. DNA extracted from peripheral white blood cells is analyzed by PCR. The PCR fragment is designed to flank the area of repeats and effectively alters the size of the PCR product correspondingly to the repeat size. The DNA is also subjected to Southern blot hybridization to analyze for fragments containing greater than 200 repeats (i.e. full mutations).

PTEN gene sequencing: performed using PCR-based Sanger sequencing of the entire coding regions and intron/exon boundaries of the PTEN gene.

MECP2 gene sequencing: performed using PCR-based Sanger sequencing of the coding regions and their exon/intron boundaries of the MECP2 gene.
 

Reported

Each of the following results (if reflexed) will be sent out in a separate final report:
SNP Microarray: 3 weeks
Fragile X testing: 2 weeks
PTEN gene sequencing: 4 weeks
MECP2 gene sequencing: 4 weeks
Please be advised that insurance pre-authorization may delay reporting timelines.


 
Result Interpretation
Laboratory Personnel Use

CPT Codes

SNP Microarray: 81229

Fragile X testing: 81243, 81244

PTEN sequencing: 81321

MECP2 sequencing: 81302

 

Please call 1-866-450-4198 for pricing or with any billing questions.

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