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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

Metabolic & Mitochondrial Testing Options

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

Test Code Test Name Turn Around Time
D4502 Comprehensive Mucopolysaccharidoses (MPS) Panel

23 Genes

2-3 weeks Order Test
D4506 Krabbe Disease Panel

2 Genes

2-3 weeks Order Test
D4508 Metachromatic Leukodystrophy Panel

7 Genes

2-3 weeks Order Test
D4532 Urea Cycle Disorders Panel

15 Genes

2-3 weeks Order Test
D4541 Elevated C5-OH Panel

11 Genes

2-3 weeks Order Test
D4549 Elevated Phenylalanine Panel

5 Genes

2-3 weeks Order Test
D4561 Maple Syrup Urine Disease Panel

5 Genes

2-3 weeks Order Test
D4562 Tyrosinemia Panel

3 Genes

2-3 weeks Order Test
D4563 Galactosemia Panel

3 Genes

2-3 weeks Order Test
D4566 Comprehensive Glycogen Storage Disease Panel

23 Genes

2-3 weeks Order Test
D4572 Fatty Acid Oxidation Defects Panel

16 Genes

2-3 weeks Order Test
D4574 Congenital Hypothyroidism

8 Genes

2-3 weeks Order Test
D4589 Methylmalonic Acidemia Panel

17 Genes

2-3 weeks Order Test
D4700 Hereditary Hemochromatosis Panel

5 Genes

2-3 weeks Order Test
D4613 Nephrotic Syndrome Panel

30 Genes

2-3 weeks Order Test
D4537 Elevated C4 Panel

3 Genes

2-3 weeks Order Test
D5202 Chronic Pancreatitis Panel

6 Genes

2-3 weeks Order Test
D5215 Hyperammonemia Panel

48 Genes

2-3 weeks Order Test
D5216 Hyperparathyroidism Panel

8 Genes

2-3 weeks Order Test
D5225 Primary Hyperoxaluria Panel

3 Genes

2-3 weeks Order Test
D4044 ABCD1 Gene Test

1 Gene

3-5 weeks Order Test
D3100 AnyGene™

1 Gene

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

Test Code Test Name Turn Around Time
D4572F STAT Fatty Acid Oxidation Defects Panel

16 Genes

7 -10 days Order Test
D4574F STAT Congenital Hypothyroidism

8 Genes

7 -10 days Order Test
D4589F STAT Methylmalonic Acidemia Panel

17 Genes

7 -10 days Order Test
D4700F STAT Hereditary Hemochromatosis Panel

5 Genes

7 -10 days Order Test
D4613F STAT Nephrotic Syndrome Panel

30 Genes

7 -10 days Order Test
D4502F STAT Comprehensive Mucopolysaccharidoses (MPS) Panel

23 Genes

7 -10 days Order Test
D4506F STAT Krabbe Disease Panel

2 Genes

7 -10 days Order Test
D4508F STAT Metachromatic Leukodystrophy Panel

7 Genes

7 -10 days Order Test
D4044F STAT ABCD1 Gene Test

1 Gene

7 -10 days Order Test
D4541F STAT Elevated C5-OH Panel

11 Genes

7 -10 days Order Test
D4549F STAT Elevated Phenylalanine Panel

5 Genes

7 -10 days Order Test
D4562F STAT Tyrosinemia Panel

3 Genes

7 -10 days Order Test
D4563F STAT Galactosemia Panel

3 Genes

7 -10 days Order Test
D4566F STAT Comprehensive Glycogen Storage Disease Panel

23 Genes

7 -10 days Order Test
D4532F STAT Urea Cycle Disorders Panel

15 Genes

7 -10 days Order Test
D4537F STAT Elevated C4 Panel

3 Genes

7 -10 days Order Test
D4561F STAT Maple Syrup Urine Disease Panel

5 Genes

7 -10 days Order Test
D3100F STAT AnyGene™

1 Gene

7 -10 days 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
D4584F STAT Congenital Adrenal Hyperplasia Panel with CYP21A2
7 Genes
7 -10 days Order Test
D4501F STAT Comprehensive Lysosomal Storage Disorders Panel with GBA and IDS
51 Genes
7 -10 days Order Test
D4571F STAT Congenital Disorders of Glycosylation Panel

93 Genes

7 -10 days Order Test
D4606F STAT Comprehensive Mitochondrial Nuclear Gene Panel

254 Genes

7 -10 days Order Test
D4607F STAT Mitochondrial Encephalopathy/Leigh Syndrome Nuclear Gene Panel

146 Genes

7 -10 days Order Test
Requisition Form – Panel Testing >

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

FAQs

The Metabolic and Mitochondrial 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.

Panels include NGS-based capture with no additional assays or pseudogene testing. PanelPlus include the selected panel PLUS the listed ancillary assay.

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.

PerkinElmer Genomics follows the published ACMG guidelines when classifying identified variants.

The genes on our pre-curated panels were chosen by our expert team of board-certified geneticists based on the clinical indication of the test and the genes’ association with disease.

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.