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The PerkinElmer Genomics Difference

  •    Enhanced NGS coverage with powerful bioinformatics to detect the majority of copy number variants (CNVs) at least 3 exons in size. 

 

  •      One of the fastest average turn-around-times at 3 weeks or less and STAT options available with a TAT of 7 to 10 days. 

 

 

  •      Flexible convenience with multiple sample types,  including saliva swabs, dried blood spots, whole blood, and genomic DNA. 

Other Conditions

Panels include NGS-based capture with no additional assays or pseudogene testing.

Test Code Test Name Turn Around Time
D4310 Alport Syndrome Panel

3 Genes

3-5 weeks Learn More
D4700 Hereditary Hemochromatosis Panel

5 Genes

3-5 weeks Learn More
D4701 Hereditary Thrombophilia Panel

7 Genes

3-5 weeks Learn More
D4703 Ciliopathies Panel

102 Genes

3-5 weeks Learn More
D4311 Bardet Biedl Panel

21 Genes

3-5 weeks Learn More
D4705 Heterotaxy Panel

11 Genes

3-5 weeks Learn More
D4013 Joubert and Meckel-Gruber Syndromes Panel

30 Genes

3-5 weeks Learn More
D4707 Cornelia de Lange Syndrome Panel

8 Genes

3-5 weeks Learn More
D4405 Treachers Collins Syndrome Sequencing Panel

3 Genes

3-5 weeks Learn More
D4712 Hyper-IgE Syndromes Panel

4 Genes

3-5 weeks Learn More
D4713 B-Negative SCID Panel

9 Genes

3-5 weeks Learn More
D3006 Comprehensive SCID Panel

26 Genes

3-5 weeks Learn More
D4716 Common Variable Immune Deficiency (CVID) Panel

4 Genes

3-5 weeks Learn More
D4717 Mendelian Susceptibility to Mycobacterial Disease Panel

16 Genes

3-5 weeks Learn More
D4719 Female Infertility Panel

7 Genes

3-5 weeks Learn More
D4720 Male Infertility Panel

5 Genes

3-5 weeks Learn More
D4724 Skeletal Dysplasia With Increased Bone Density: Sequencing Panel

22 Genes

3-5 weeks Learn More
D4725 Limb Malformation: Sequencing Panel

46 Genes

3-5 weeks Learn More
D4729 Periodic Fever Syndromes Panel

12 Genes

3-5 weeks Learn More
D4730 Familial Mediterranean Fever Panel

12 Genes

3-5 weeks Learn More
D4731 Obesity Panel

35 Genes

3-5 weeks Learn More
D4732 Pulmonary Disease: Comprehensive Sequencing Panel

52 Genes

3-5 weeks Learn More
D4733 MODY Panel

16 Genes

3-5 weeks Learn More
D4734 Hereditary Hemorrhagic Telangiectasia Panel

7 Genes

3-5 weeks Learn More
D4714 B-Positive SCID Panel

17 Genes

3-5 weeks Learn More
Prioritized NGS-based testing with accelerated turn-around-times of 7 to 10 days.

Test Code Test Name Turn Around Time
D4310F STAT Alport Syndrome Panel

3 Genes

7 -10 days Learn More
D4700F STAT Hereditary Hemochromatosis Panel

5 Genes

7 -10 days Learn More
D4701F STAT Hereditary Thrombophilia Panel

7 Genes

7 -10 days Learn More
D4703F STAT Ciliopathies Panel

102 Genes

7 -10 days Learn More
D4311F STAT Bardet Biedl Panel

21 Genes

7 -10 days Learn More
D4705F STAT Heterotaxy Panel

11 Genes

7 -10 days Learn More
D4013F STAT Joubert and Meckel-Gruber Syndromes Panel

30 Genes

7 -10 days Learn More
D4707F STAT Cornelia de Lange Syndrome Panel

8 Genes

7 -10 days Learn More
D4405F STAT Treachers Collins Syndrome Sequencing Panel

3 Genes

7 -10 days Learn More
D4712F STAT Hyper-IgE Syndromes Panel

4 Genes

7 -10 days Learn More
D4713F STAT B-Negative SCID Panel

9 Genes

7 -10 days Learn More
D4714F STAT B-Positive SCID Panel

17 Genes

7 -10 days Learn More
D3006F STAT Comprehensive SCID Panel

26 Genes

7 -10 days Learn More
D4716F STAT Common Variable Immune Deficiency (CVID) Panel

4 Genes

7 -10 days Learn More
D4717F STAT Mendelian Susceptibility to Mycobacterial Disease Panel

16 Genes

7 -10 days Learn More
D4719F STAT Female Infertility Panel

7 Genes

7 -10 days Learn More
D4720F STAT Male Infertility Panel

5 Genes

7 -10 days Learn More
D4724F STAT Skeletal Dysplasia With Increased Bone Density: Sequencing Panel

22 Genes

7 -10 days Learn More
D4725F STAT Limb Malformation: Sequencing Panel

46 Genes

7 -10 days Learn More
D4729F STAT Periodic Fever Syndromes Panel

12 Genes

7 -10 days Learn More
D4730F STAT Familial Mediterranean Fever Panel

12 Genes

7 -10 days Learn More
D4731F STAT Obesity Panel

35 Genes

7 -10 days Learn More
D4732F STAT Pulmonary Disease: Comprehensive Sequencing Panel

52 Genes

7 -10 days Learn More
D4733F STAT MODY Panel

16 Genes

7 -10 days Learn More
D4734F STAT Hereditary Hemorrhagic Telangiectasia Panel

7 Genes

7 -10 days Learn More
NGS-based testing with ancillary assays.

Test Code Test Name Turn Around Time
D4718 Premature Ovarian Failure: Sequencing Panel and FMR1 CGG Repeat Analysis

21 Genes

3-5 weeks Learn More
NGS-based testing with ancillary assays at an accelerated turn-around-time of 7 to 10 days.

Test Code Test Name Turn Around Time
D4718F STAT Premature Ovarian Failure: Sequencing Panel and FMR1 CGG Repeat Analysis

21 Genes

7 -10 days Learn More

How to Order

1. Complete & print the test requisition below.

Ensure that: 

  •      All sections are complete 
  •      You have the correct test code 
  •      Your patient has signed an informed consent 

2. Collect patient sample.

Obtain a sample for testing from the patient and confirm that the sample is correctly labeled with the patient’s name and date of birth 

Note: if you do not have a PerkinElmer Genomics kit available in your office, please email or call us at 1-866-354-2910.

3. Send patient sample.

Ship your test kit back using the pre-paid shipping label. Remember to include:      

✔   Patient sample 

✔   Completed informed consent 

✔   Test requisition form 

✔   Any applicable medical records or clinical notes 

Requisition Form – Panel Testing

FAQs

These test options have an average turn-around-time of 3 weeks or less. STAT testing is also available to accelerate the delivery of results to patient with a TAT of 7-10 days.

For pricing, please email PerkinElmer Genomics or call us at 1-866-354-2910.

PerkinElmer Genomics accepts multiple sample types including Saliva Swabs, Dried Blood Spots, Whole Blood, and Genomic DNA.

Yes, you can opt to ship testing kits directly to patients in our online ordering portal. Find out more about the process here.

All reported variants are confirmed using an orthogonal method.
No, TRIO-Based Panels cannot be customized at this time.

The TRIO Family Member form is a separate form if or when you send the family member samples separately from the patient’s sample.

PerkinElmer Genomics accepts multiple sample types including Saliva Swabs, Dried Blood Spots, Whole Blood, and Genomic DNA.

Yes, you can opt to ship testing kits directly to patients in our online ordering portal. Find out more about the process here.

All reported variants are confirmed using an orthogonal method.

For questions about gene coverage, please email PerkinElmer Genomics or call us at 1-866-354-2910.

If you have additional questions, please feel free to email or call us at 1-866-354-2910.