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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.
Order Testing

Other Conditions

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

Test Code Test Name Turn Around Time  
D4700

Hereditary Hemochromatosis Panel

5 Genes

 2-3 weeks Order Test
D4701

Hereditary Thrombophilia Panel

7 Genes

 2-3 weeks Order Test
D4703

Ciliopathies Panel

101 Genes

 3-5 weeks Order Test
D4705

Heterotaxy Panel

11 Genes

 2-3 weeks Order Test
D4013

Joubert and Meckel-Gruber Syndromes Panel

30 Genes

 2-3 weeks Order Test
D4707

Cornelia de Lange Syndrome Panel

8 Genes

 2-3 weeks Order Test
D4405

Treacher Collins Syndrome Sequencing Panel

3 Genes

 2-3 weeks Order Test
D4712

Hyper-IgE Syndromes Panel

4 Genes

 2-3 weeks Order Test
D4724

Skeletal Dysplasia With Increased Bone Density: Sequencing Panel

22 Genes

 2-3 weeks Order Test
D4725

Limb Malformation: Sequencing Panel

40 Genes

 2-3 weeks Order Test
D4729

Periodic Fever Syndromes Panel

12 Genes

 2-3 weeks Order Test
D4730

Familial Mediterranean Fever Panel

9 Genes

 2-3 weeks Order Test
D4731

Obesity Panel

35 Genes

 2-3 weeks Order Test
D4732

Pulmonary Disease: Comprehensive Sequencing Panel

52 Genes

 2-3 weeks Order Test
D4733

MODY Panel

17 Genes

 2-3 weeks Order Test
D4734

Hereditary Hemorrhagic Telangiectasia Panel

5 Genes

 2-3 weeks Order Test
D5210

Ehlers Danlos Panel

11 Genes

 2-3 weeks Order Test
D4708

Noonan and RASopathies Panel

17 Genes

 2-3 weeks Order Test
D5214

Holoprosencephaly Panel

10 Genes

 2-3 weeks Order Test
D5220

Myelodysplastic Syndrome/Leukemia Panel

14 Genes

 2-3 weeks Order Test
D5227

Senior-Loken Syndrome Panel

9 Genes

 2-3 weeks Order Test

Prioritized NGS-based testing with accelerated turn-around-times of 7 to 10 days.

Test Code Test Name Turn Around Time
D4700F STAT Hereditary Hemochromatosis Panel

5 Genes

 7 -10 days Order Test
D4701F STAT Hereditary Thrombophilia Panel

7 Genes

 7 -10 days Order Test
D4703F STAT Ciliopathies Panel

101 Genes

 7 -10 days Order Test
D4705F STAT Heterotaxy Panel

11 Genes

 7 -10 days Order Test
D4707F STAT Cornelia de Lange Syndrome Panel

8 Genes

 7 -10 days Order Test
D4405F STAT Treacher Collins Syndrome Sequencing Panel

3 Genes

 7 -10 days Order Test
D4712F STAT Hyper-IgE Syndromes Panel

4 Genes

 7 -10 days Order Test
D4724F STAT Skeletal Dysplasia With Increased Bone Density: Sequencing Panel

22 Genes

 7 -10 days Order Test
D4725F STAT Limb Malformation: Sequencing Panel

40 Genes

 7 -10 days Order Test
D4729F STAT Periodic Fever Syndromes Panel

12 Genes

 7 -10 days Order Test
D4730F STAT Familial Mediterranean Fever Panel

9 Genes

 7 -10 days Order Test
D4731F STAT Obesity Panel

35 Genes

 7 -10 days Order Test
D4732F STAT Pulmonary Disease: Comprehensive Sequencing Panel

52 Genes

 7 -10 days Order Test
D4733F STAT MODY Panel

17 Genes

 7 -10 days Order Test
D4734F STAT Hereditary Hemorrhagic Telangiectasia Panel

5 Genes

 7 -10 days Order Test
D4708F STAT Noonan and RASopathies Panel

19 Genes

 7 -10 days Order Test

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 Order Test

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 Order Test

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 submit a request to PerkinElmer Genomics, or 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.

Please utilize the Exome and Panel Coverage Tool to verify specific gene coverage: https://apps.perkinelmergenomics.com/gene-coverage/.

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