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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.

Metabolic & Mitochondrial Testing Options

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

Test Code Test Name Turn Around Time
D4500 Ceroid Lipofuscinosis Panel

13 Genes

3-5 weeks Learn More
D4501 Comprehensive Lysosomal Storage Disorders Panel with GBA and IDS
54 Genes
3-5 weeks Learn More
D4502 Comprehensive Mucopoly- saccharidoses (MPS) Panel

23 Genes

3-5 weeks Learn More
D4503 Farber Lipogranuloma- tosis Test

1 Genes

3-5 weeks Learn More
D5033 GLA Gene Test

1 Genes

3-5 weeks Learn More
D4505 GM2 Gangliosidosis Panel

3 Genes

3-5 weeks Learn More
D4506 Krabbe Disease Panel

2 Genes

3-5 weeks Learn More
D4507 Lysosomal Acid Lipase Deficiency

1 Genes

3-5 weeks Learn More
D4508 Metachromatic Leukodystrophy Panel

7 Genes

3-5 weeks Learn More
D4509 Mucolipidosis Panel

4 Genes

3-5 weeks Learn More
D5058 SUMF1 Gene Test

1 Genes

3-5 weeks Learn More
D4511 Comprehensive Neuronal Ceroid Lipofuscinoses Panel

13 Genes

3-5 weeks Learn More
D5057 SMPD1 Gene Test

1 Genes

3-5 weeks Learn More
D4513 Niemann-Pick Type C Panel

3 Genes

3-5 weeks Learn More
D4514 Oligo- saccharidoses Panel

23 Genes

3-5 weeks Learn More
D4516 Prosaposin Deficiency Test

1 Genes

3-5 weeks Learn More
D4517 Sandhoff Disease Test

1 Genes

3-5 weeks Learn More
D4518 Tay-Sachs Disease Test

1 Genes

3-5 weeks Learn More
D5025 GAA Gene Test

1 Genes

3-5 weeks Learn More
D4043 Adrenoleukodystrophy Panel with ABCD1
15 Genes
3-5 weeks Learn More
D5009 ARSB Gene Test

1 Genes

3-5 weeks Learn More
D5031 GALC Gene Test

1 Genes

3-5 weeks Learn More
D5028 GALNS Gene Test

1 Genes

3-5 weeks Learn More
D5032F STAT GBA Gene Test

1 Genes

7 -10 days Learn More
D5034 GLB1 Gene Test

1 Genes

3-5 weeks Learn More
D5035 GUSB Gene Test

1 Genes

3-5 weeks Learn More
D5042 IDS Gene Test

1 Genes

3-5 weeks Learn More
D5041 IDUA Gene Test

1 Genes

3-5 weeks Learn More
D4528 NAGLU MP-SIIIB Gene Test

1 Genes

3-5 weeks Learn More
D4044 ABCD1 Gene Test 3-5 weeks Learn More
D4530 Cystinosis Test

1 Genes

3-5 weeks Learn More
D4531 Non Ketotic Hyperglycinemia Panel

3 Genes

3-5 weeks Learn More
D4532 Urea Cycle Dis- orders Panel

15 Genes

3-5 weeks Learn More
D4533 Low C0 Test

1 Genes

3-5 weeks Learn More
D4534 Elevated C0/ (C16+C18) Test

1 Genes

3-5 weeks Learn More
D4535 Elevated C3 Panel

9 Genes

3-5 weeks Learn More
D4536 Elevated C3- DC Test

1 Genes

3-5 weeks Learn More
D4537 Elevated C4 Panel

3 Genes

3-5 weeks Learn More
D4538 Elevated C4- OH Panel

2 Genes

3-5 weeks Learn More
D4539 Elevated C4 & C5 Panel

7 Genes

3-5 weeks Learn More
D4540 Elevated C5 Panel

2 Genes

3-5 weeks Learn More
D4541 Elevated C5- OH Panel

12 Genes

3-5 weeks Learn More
D4542 Elevated C16- OH, C16:1- OH, C18-OH & C18:1-OH Panel

2 Genes

3-5 weeks Learn More
D4543 Elevated C16, C16:1, C18, & C18:1 Panel

2 Genes

3-5 weeks Learn More
D4544 Elevated Arginine Test

1 Genes

3-5 weeks Learn More
D4545 Elevated Citrulline Panel

5 Genes

3-5 weeks Learn More
D4546 Elevated Glycine Panel

61 Genes

3-5 weeks Learn More
D4547 Elevated Leucine Panel

5 Genes

3-5 weeks Learn More
D4548 Elevated Methionine Panel

6 Genes

3-5 weeks Learn More
D4549 Elevated Phenylalanine Panel

6 Genes

3-5 weeks Learn More
D4550 Elevated Proline Panel

2 Genes

3-5 weeks Learn More
D4551 Elevated Succinylacetone Test

1 Genes

3-5 weeks Learn More
D4552 Elevated Tyrosine Panel

3 Genes

3-5 weeks Learn More
D4553 Alkaptonuria Test

1 Genes

3-5 weeks Learn More
D4554 Combined Methylmalonic Acidemia with Homocystinuria Panel

11 Genes

3-5 weeks Learn More
D4555 Cystinuria Panel

3 Genes

3-5 weeks Learn More
D4556 Disorders of Serine Biosynthesis Panel

3 Genes

3-5 weeks Learn More
D4557 Glycine Encephalopathy Panel

6 Genes

3-5 weeks Learn More
D4558 Homocystinuria Panel

18 Genes

3-5 weeks Learn More
D4559 Hyperphenylal- aninemia Panel

6 Genes

3-5 weeks Learn More
D4560 Hyperprolinemia Panel

2 Genes

3-5 weeks Learn More
D4561 Maple Syrup Urine Disease Panel

5 Genes

3-5 weeks Learn More
D4562 Tyrosinemia Panel

3 Genes

3-5 weeks Learn More
D4563 Galactosemia Panel

3 Genes

3-5 weeks Learn More
D4565 Glucose Transporter Type 1 Deficiency Syndrome Test

1 Genes

3-5 weeks Learn More
D5024 G6PD Gene Test

1 Genes

3-5 weeks Learn More
D4566 Comprehensive Glycogen Storage Disease Panel

23 Genes

3-5 weeks Learn More
D4567 Liver Glycogen Storage Disease Panel

11 Genes

3-5 weeks Learn More
D4568 Muscle Glycogen Storage Dis- ease Panel

15 Genes

3-5 weeks Learn More
D4569 Hereditary Fructose Intolerance Test

1 Genes

3-5 weeks Learn More
D4570 Rare Carbohydrate Disorders Panel

2 Genes

3-5 weeks Learn More
D4571 Congenital Disorders of Glycosylation Panel

102 Genes

3-5 weeks Learn More
D4572 Fatty Acid Oxidation Defects Panel

22 Genes

3-5 weeks Learn More
D4573 Ketogenesis Disorders Panel

2 Genes

3-5 weeks Learn More
D4574 Congenital Hypothyroidism

8 Genes

3-5 weeks Learn More
D4575 Ketolysis Disorders Panel

2 Genes

3-5 weeks Learn More
D4577 Multiple Acyl-CoA Dehydrogenase Deficiency Panel

6 Genes

3-5 weeks Learn More
D4579 Copper Metabolism Disorders Panel

5 Genes

3-5 weeks Learn More
D5002 ACADM Gene Test

1 Genes

3-5 weeks Learn More
D5005 ACADVL Gene Test

1 Genes

3-5 weeks Learn More
D4580 Organic Acidemias Panel

56 Genes

3-5 weeks Learn More
D4581 2-Hydroxyglutaric Aciduria Panel

4 Genes

3-5 weeks Learn More
D4583 3-Methylglu- taconic Aciduria Panel

7 Genes

3-5 weeks Learn More
D4584 Congenital Adrenal Hyperplasia Panel with CYP21A2
7 Genes
3-5 weeks Learn More
D4585 Barth Syndrome Test

1 Genes

3-5 weeks Learn More
D3007 MCCC1 and MCCC2 Gene Test

2 Genes

3-5 weeks Learn More
D5014 BTD Gene Test

1 Genes

3-5 weeks Learn More
D4587 Canavan Disease Test

1 Genes

3-5 weeks Learn More
D5030 GCDH Gene Test

1 Genes

3-5 weeks Learn More
D4589 Methylmalonic Acidemia Panel

18 Genes

3-5 weeks Learn More
D4590 Multiple Carboxylase Deficiency Panel

2 Genes

3-5 weeks Learn More
D4591 Propionic Acidemia Panel

9 Genes

3-5 weeks Learn More
D4592 Purine Metabolism Disorders Panel

10 Genes

3-5 weeks Learn More
D4593 2-Ketoglutarate Dehydrogenase Deficiency Panel

4 Genes

3-5 weeks Learn More
D4594 Citrate Transporter Deficiency Test

1 Genes

3-5 weeks Learn More
D4595 Dihydrolipoamide Dehydrogenase Deficiency Test

1 Genes

3-5 weeks Learn More
D4596 Fumarase Deficiency Test

1 Genes

3-5 weeks Learn More
D4597 Pyruvate Carboxylase Deficiency Test

1 Genes

3-5 weeks Learn More
D4598 Pyruvate Dehydrogenase Deficiency Panel

8 Genes

3-5 weeks Learn More
D4599 Treatable Neurometabolic Disorders Panel

133 Genes

3-5 weeks Learn More
D5050 PAH Gene Test

1 Genes

3-5 weeks Learn More
D4700 Hereditary Hemochromatosis Panel

5 Genes

3-5 weeks Learn More
D4604 ATP7A-Related Disorders

1 Genes

3-5 weeks Learn More
D4605 Wilson Disease Test

1 Genes

3-5 weeks Learn More
D4606 Comprehensive Mitochondrial Nuclear Gene Panel

254 Genes

3-5 weeks Learn More
D4607 Mitochondrial Encephalopathy/ Leigh Syndrome Nuclear Gene Panel

146 Genes

3-5 weeks Learn More
D4608 Zellweger Syndrome Panel

12 Genes

3-5 weeks Learn More
D4609 Adult Refsum Disease Panel

2 Genes

3-5 weeks Learn More
D4610 Rhizomelic Chondrodys- plasia Punctata Spectrum Panel

3 Genes

3-5 weeks Learn More
D4611 Zellweger Spectrum Disorder Panel

15 Genes

3-5 weeks Learn More
D4613 Nephrotic Syndrome Panel

37 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
D4568F STAT Muscle Glycogen Storage Dis- ease Panel

15 Genes

7 -10 days Learn More
D4569F STAT Hereditary Fructose Intolerance Test

1 Genes

7 -10 days Learn More
D4570F STAT Rare Carbohydrate Disorders Panel

2 Genes

7 -10 days Learn More
D4571F STAT Congenital Disorders of Glycosylation Panel

102 Genes

7 -10 days Learn More
D4572F STAT Fatty Acid Oxidation Defects Panel

22 Genes

7 -10 days Learn More
D4573F STAT Ketogenesis Disorders Panel

2 Genes

7 -10 days Learn More
D4574F STAT Congenital Hypothyroidism

8 Genes

7 -10 days Learn More
D4575F STAT Ketolysis Disorders Panel

2 Genes

7 -10 days Learn More
D5002F STAT ACADM Gene Test

1 Genes

7 -10 days Learn More
D4577F STAT Multiple Acyl-CoA Dehydrogenase Deficiency Panel

6 Genes

7 -10 days Learn More
D5005F STAT ACADVL Gene Test

1 Genes

7 -10 days Learn More
D4579F STAT Copper Metabolism Disorders Panel

5 Genes

7 -10 days Learn More
D4580F STAT Organic Acidemias Panel

56 Genes

7 -10 days Learn More
D4581F STAT 2-Hydroxyglutaric Aciduria Panel

4 Genes

7 -10 days Learn More
D4583F STAT 3-Methylglu- taconic Aciduria Panel

7 Genes

7 -10 days Learn More
D4584F STAT Congenital Adrenal Hyperplasia Panel with CYP21A2
7 Genes
7 -10 days Learn More
D4585F STAT Barth Syndrome Test

1 Genes

7 -10 days Learn More
D4587F STAT Canavan Disease Test

1 Genes

7 -10 days Learn More
D3007F STAT MCCC1 and MCCC2 Gene Test

2 Genes

7 -10 days Learn More
D5014F STAT BTD Gene Test

1 Genes

7 -10 days Learn More
D5030F STAT GCDH Gene Test

1 Genes

7 -10 days Learn More
D4589F STAT Methylmalonic Acidemia Panel

18 Genes

7 -10 days Learn More
D4590F STAT Multiple Carboxylase Deficiency Panel

2 Genes

7 -10 days Learn More
D4591F STAT Propionic Acidemia Panel

9 Genes

7 -10 days Learn More
D4592F STAT Purine Metabolism Disorders Panel

10 Genes

7 -10 days Learn More
D4593F STAT 2-Ketoglutarate Dehydrogenase Deficiency Panel

4 Genes

7 -10 days Learn More
D4594F STAT Citrate Transporter Deficiency Test

1 Genes

7 -10 days Learn More
D4595F STAT Dihydrolipoamide Dehydrogenase Deficiency Test

1 Genes

7 -10 days Learn More
D4596F STAT Fumarase Deficiency Test

1 Genes

7 -10 days Learn More
D4597F STAT Pyruvate Carboxylase Deficiency Test

1 Genes

7 -10 days Learn More
D4598F STAT Pyruvate Dehydrogenase Deficiency Panel

8 Genes

7 -10 days Learn More
D4599F STAT Treatable Neurometabolic Disorders Panel

133 Genes

7 -10 days Learn More
D5050F STAT PAH Gene Test

1 Genes

7 -10 days Learn More
D4700F STAT Hereditary Hemochromatosis Panel

5 Genes

7 -10 days Learn More
D4604F STAT ATP7A-Related Disorders

1 Genes

7 -10 days Learn More
D4605F STAT Wilson Disease Test

1 Genes

7 -10 days Learn More
D4606F STAT Comprehensive Mitochondrial Nuclear Gene Panel

254 Genes

7 -10 days Learn More
D4607F STAT Mitochondrial Encephalopathy/ Leigh Syndrome Nuclear Gene Panel

146 Genes

7 -10 days Learn More
D4608F STAT Zellweger Syndrome Panel

12 Genes

7 -10 days Learn More
D4609F STAT Adult Refsum Disease Panel

2 Genes

7 -10 days Learn More
D4610F STAT Rhizomelic Chondrodys- plasia Punctata Spectrum Panel

3 Genes

7 -10 days Learn More
D4611F STAT Zellweger Spectrum Disorder Panel

15 Genes

7 -10 days Learn More
D4613F STAT Nephrotic Syndrome Panel

37 Genes

7 -10 days Learn More
D4500F STAT Ceroid Lipofuscinosis Panel

13 Genes

7 -10 days Learn More
D4501F STAT Comprehensive Lysosomal Storage Disorders Panel with GBA and IDS
54 Genes
7 -10 days Learn More
D4502F STAT Comprehensive Mucopoly- saccharidoses (MPS) Panel

23 Genes

7 -10 days Learn More
D4503F STAT Farber Lipogranuloma- tosis Test

1 Genes

7 -10 days Learn More
D5033F STAT GLA Gene Test

1 Genes

7 -10 days Learn More
D4505F STAT GM2 Gangliosidosis Panel

3 Genes

7 -10 days Learn More
D4506F STAT Krabbe Disease Panel

2 Genes

7 -10 days Learn More
D4507F STAT Lysosomal Acid Lipase Deficiency

1 Genes

7 -10 days Learn More
D4508F STAT Metachromatic Leukodystrophy Panel

7 Genes

7 -10 days Learn More
D4509F STAT Mucolipidosis Panel

4 Genes

7 -10 days Learn More
D5058F STAT SUMF1 Gene Test

1 Genes

7 -10 days Learn More
D4511F STAT Comprehensive Neuronal Ceroid Lipofuscinoses Panel

13 Genes

7 -10 days Learn More
D5057F STAT SMPD1 Gene Test

1 Genes

7 -10 days Learn More
D4513F STAT Niemann-Pick Type C Panel

3 Genes

7 -10 days Learn More
D4514F STAT Oligo- saccharidoses Panel

23 Genes

7 -10 days Learn More
D5025F STAT GAA Gene Test

1 Genes

7 -10 days Learn More
D4516F STAT Prosaposin Deficiency Test

1 Genes

7 -10 days Learn More
D4517F STAT Sandhoff Disease Test

1 Genes

7 -10 days Learn More
D4518F STAT Tay-Sachs Disease Test

1 Genes

7 -10 days Learn More
D5009F STAT ARSB Gene Test

1 Genes

7 -10 days Learn More
D5031F STAT GALC Gene Test

1 Genes

7 -10 days Learn More
D5028F STAT GALNS Gene Test

1 Genes

7 -10 days Learn More
D5032F STAT GBA Gene Test

1 Genes

7 -10 days Learn More
D5034F STAT GLB1 Gene Test

1 Genes

7 -10 days Learn More
D5035F STAT GUSB Gene Test

1 Genes

7 -10 days Learn More
D5042F STAT IDS Gene Test

1 Genes

7 -10 days Learn More
D5041F STAT IDUA Gene Test

1 Genes

7 -10 days Learn More
D4528F STAT NAGLU MP-SIIIB Gene Test

1 Genes

7 -10 days Learn More
D4044F STAT ABCD1 Gene Test 7 -10 days Learn More
D4530F STAT Cystinosis Test

1 Genes

7 -10 days Learn More
D4531F STAT Non Ketotic Hyperglycinemia Panel

3 Genes

7 -10 days Learn More
D4532F STAT Urea Cycle Dis- orders Panel

15 Genes

7 -10 days Learn More
D4533F STAT Low C0 Test

1 Genes

7 -10 days Learn More
D4534F STAT Elevated C0/ (C16+C18) Test

1 Genes

7 -10 days Learn More
D4535F STAT Elevated C3 Panel

9 Genes

7 -10 days Learn More
D4536F STAT Elevated C3- DC Test

1 Genes

7 -10 days Learn More
D4537F STAT Elevated C4 Panel

3 Genes

7 -10 days Learn More
D4538F STAT Elevated C4- OH Panel

2 Genes

7 -10 days Learn More
D4539F STAT Elevated C4 & C5 Panel

7 Genes

7 -10 days Learn More
D4540F STAT Elevated C5 Panel

2 Genes

7 -10 days Learn More
D4541F STAT Elevated C5- OH Panel

12 Genes

7 -10 days Learn More
D4542F STAT Elevated C16- OH, C16:1- OH, C18-OH & C18:1-OH Panel

2 Genes

7 -10 days Learn More
D4543F STAT Elevated C16, C16:1, C18, & C18:1 Panel

2 Genes

7 -10 days Learn More
D4544F STAT Elevated Arginine Test

1 Genes

7 -10 days Learn More
D4545F STAT Elevated Citrulline Panel

5 Genes

7 -10 days Learn More
D4546F STAT Elevated Glycine Panel

61 Genes

7 -10 days Learn More
D4547F STAT Elevated Leucine Panel

5 Genes

7 -10 days Learn More
D4548F STAT Elevated Methionine Panel

6 Genes

7 -10 days Learn More
D4549F STAT Elevated Phenylalanine Panel

6 Genes

7 -10 days Learn More
D4550F STAT Elevated Proline Panel

2 Genes

7 -10 days Learn More
D4551F STAT Elevated Succinylacetone Test

1 Genes

7 -10 days Learn More
D4553F STAT Alkaptonuria Test

1 Genes

7 -10 days Learn More
D4554F STAT Combined Methylmalonic Acidemia with Homocystinuria Panel

11 Genes

7 -10 days Learn More
D4555F STAT Cystinuria Panel

3 Genes

7 -10 days Learn More
D4556F STAT Disorders of Serine Biosynthesis Panel

3 Genes

7 -10 days Learn More
D4557F STAT Glycine Encephalopathy Panel

6 Genes

7 -10 days Learn More
D4558F STAT Homocystinuria Panel

18 Genes

7 -10 days Learn More
D4559F STAT Hyperphenylal- aninemia Panel

6 Genes

7 -10 days Learn More
D4560F STAT Hyperprolinemia Panel

2 Genes

7 -10 days Learn More
D4561F STAT Maple Syrup Urine Disease Panel

5 Genes

7 -10 days Learn More
D4562F STAT Tyrosinemia Panel

3 Genes

7 -10 days Learn More
D4563F STAT Galactosemia Panel

3 Genes

7 -10 days Learn More
D5024F STAT G6PD Gene Test

1 Genes

7 -10 days Learn More
D4565F STAT Glucose Transporter Type 1 Deficiency Syndrome Test

1 Genes

7 -10 days Learn More
D4566F STAT Comprehensive Glycogen Storage Disease Panel

23 Genes

7 -10 days Learn More
D4567F STAT Liver Glycogen Storage Disease Panel

11 Genes

7 -10 days Learn More
NGS-based capture with the ancillary assays as indicated. 

Test Code Test Name Turn Around Time
D4584 Congenital Adrenal Hyperplasia Panel with CYP21A2
7 Genes
3-5 weeks Learn More
D3001 Lysosomal Storage Disorder Panel with GBA and IDS
12 Genes
3-5 weeks Learn More
D4501 Comprehensive Lysosomal Storage Disorders Panel with GBA and IDS
54 Genes
3-5 weeks Learn More
D4043 Adrenoleukodystrophy Panel with ABCD1
15 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
D4584F STAT Congenital Adrenal Hyperplasia Panel with CYP21A2
7 Genes
7 -10 days Learn More
D4501F STAT Comprehensive Lysosomal Storage Disorders Panel with GBA and IDS
54 Genes
7 -10 days Learn More
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 email PerkinElmer Genomics or call us at 1-866-354-2910.

No, all Metabolic and Mitochondrial genetic tests are the same cost regardless of the number of genes ordered.

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.

Yes, a full list of pre-curated panels can be found here.

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.