Second-Tier Testing

From biochemical screening to comprehensive genetic testing panels

PerkinElmer Genomics prides itself on offering a complete continuum of care for our patients in order to meet all of their diagnostic needs. From newborn screening to whole genome sequencing, we offer one of the widest array of testing options available to healthcare providers when navigating the diagnostic process. Our complete biochemical testing menu pairs biochemical assays (such as enzyme analysis) with a multitude of genetic testing options to ensure that providers have both the tools that they need, along with the options that that they prefer, when treating and diagnosing biochemical and metabolic conditions.

Testing Options

Comprehensive Testing Options

These comprehensive testing options are designed to test for a large number of biochemical conditions simultaneously – either through biochemical assays or genetic testing panels.

BIOCHEMICAL TESTS
StepOne® Comprehensive Biochemical Profile
Post-Mortem Screening Panel
GENETIC TESTS
NeoSeq Newborn and Pediatric Gene Panel
Expanded Newborn Screening and Gene Sequencing Panel
Newborn screening (NBS) Gene Sequencing Panel
Newborn Screening and Lysosomal Storage Disease Panel
Amino Acid, Organic Acid, and Fatty Acid Oxidation Disorders

Available biochemical and genetic testing options available for suspected Amino Acid, Organic Acid, and/or Fatty Acid Oxidation Disorders.

BIOCHEMICAL TESTS
Acylcarnitine Profile
Amino Acid Profile
PKU Monitoring
Tyrosinemia Monitoring
Succinylacetone (SUAC) Enzyme Analysis
GENETIC TESTS
NADK2 Gene Sequencing
ACADSB Gene Sequencing
3-MCC Deficiency Mutation Panel (Targeted Testing)
MCCC1 and MCCC2 Gene Sequencing
AUH Gene Sequencing
ARG1 Gene Sequencing
ASL Gene Sequencing
ACAT1 Gene Sequencing
GCH1 and PTS Gene Sequencing
PCBD1 and QDPR Gene Sequencing
CPT1A Gene Sequencing
CPT2 Gene Sequencing
SLC22A5 Gene Sequencing
SLC25A20 Gene Sequencing
ASS1 Gene Sequencing
SLC25A13 Gene Sequencing
MMAA and MMAB Gene Sequencing
MMACHC Gene Sequencing
MMADHC Gene Sequencing
Glutaric Acidemia Type I Mutation Panel (Targeted Testing)
ETFA, ETFB, and ETFDH Gene Sequencing
GCDH Gene Sequencing
HMGCL Gene Sequencing
CBS Gene Sequencing
ADK Gene Sequencing
ACAD8 Gene Sequencing
Isovaleric Acidemia Mutation Panel (Targeted Testing)
IVD Gene Sequencing
LCHADD Mutation Panel (Targeted Testing)
HADHA and HADHB Gene Sequencing
Maple Syrup Urine Disease Mutation Panel (Targeted Testing)
BCKDHA, BCKDHB, and DBT Gene Sequencing
MCADD Mutation Panel (Targeted Testing)
ACADM Gene Sequencing
Methylmalonic Acidemia Mutation Panel (Targeted Testing)
MUT Gene Sequencing
HLCS Gene Sequencing
SUMF1 Gene Sequencing
PAH Gene Sequencing
Propionic Acidemia Mutation Panel (Targeted Testing)
PCCA and PCCB Gene Sequencing
HADH Gene Sequencing
ACADS Gene Sequencing
FAH Gene Sequencing
TAT Gene Sequencing
HPD Gene Sequencing
ACADVL Gene Sequencing
Biotinidase Deficiency

Available biochemical and genetic testing options available for suspected Biotinidase Deficiency.

Cystic Fibrosis

Available biochemical and genetic testing options available for suspected Cystic Fibrosis.

Duchenne Muscular Dystrophy

Available biochemical and genetic testing options available for suspected Duchenne Muscular Dystrophy.

Galactosemia

Available biochemical and genetic testing options available for suspected Galactosemia.

BIOCHEMICAL TESTS
Galactosemia Monitoring
GENETIC TESTS
Galactosemia Mutation Panel (Targeted Testing)
GALK Gene Sequencing
GALT Gene Sequencing
GALE Gene Sequencing
Glucose-6-phosphate Dehydrogenase Deficiency

Available biochemical and genetic testing options available for suspected Glucose-6-phosphate dehydrogenase deficiency.

BIOCHEMICAL TESTS
Glucose-6-phosphate Dehyrogenase Deficiency (screening only)
GENETIC TESTS
Glucose-6-phosphate Dehyrogenase Deficiency Mutation Panel (Targeted Testing)
G6PD Gene Sequencing
Lysosomal Storage Diseases

Available biochemical and genetic testing options available for suspected Lysosomal Storage Diseases.

Severe Combined Immunodeficiency (SCID)

Available biochemical and genetic testing options available for suspected SCID.

Sickle Cell and Other Hemoglobinopathies

Available biochemical and genetic testing options available for suspected Sickle Cell and/or other Hemoglobinopathies.

Spinal Muscular Atrophy (SMA)

Available biochemical and genetic testing options available for suspected SMA.

Other
BIOCHEMICAL TESTS
Congenital Adrenal Hyperplasia – 17Α Hydroxyprogesterone (17 OHP)
Thyroxine (T4)
Thyroid-Stimulating Hormone (TSH)
X-linked Adrenoleukodystrophy – C26:0 Lysophosphatidylcholine
GENETIC TESTS
CYP21A2 Gene Sequencing and Del/Dup Testing (by MLPA)
FMR1 Triplet Repeat (CGG) Testing
ABCD1 Gene Testing
Custom

Don’t see a panel that fits your patient’s needs? No problem, we can create it for you! Just submit the genes that you would like to analyze, and we will create a custom panel for your patient. To learn more click here.

GENETIC TESTS
AnyPanel – Custom

Why PerkinElmer Genomics

  • Comprehensive menu: Over 150 different tests focused on biochemical and metabolic conditions.
  • Flexibility in testing options
    • Biochemical analyte testing including metabolic profiles, enzyme analysis, disease monitoring, and more.
    • Genetic testing options ranging from common mutation screening panels to large full gene sequencing panels.
  • Rapid-Turn-Around Times (TATs)
    • 3 days for most biochemical assays
    • 10-12 days for most common mutation panel genetic tests
    • 3 weeks or less for all other genetic tests

FAQs

How long does it take to receive results from the tests on the biochemical and metabolic testing menu?

The TAT can vary depending on the type of test selected. In general the TATs are 3 days for most biochemical assays, 10-12 days for most common mutation panel genetic tests, and 3 weeks or less for all other genetic tests.

What are the prices of the tests on your biochemical and metabolic testing menu?

For pricing, please email PerkinElmer Genomics or call us at 1800-419-1400.

What sample types do you accept?

All biochemical assays, including the StepOne® Comprehensive Biochemical Profile, require a dried blood sample. For any of our genetic testing options, we can accept a variety of sample types, including: Dried Blood Spots, Whole Blood, Saliva Swabs and Genomic DNA. Click here for all Specimen Requirements.

How do I collect a dried blood spot sample for the biochemical assays?

Detailed directions on sample collection are included in each individual sample collection kit. Additionally, a copy of those instructions can be found here.

How do I know if I collect the sample correctly on a dried blood spot card?

For a correctly collected sample, the blood should completely fill each circle on the Dried Blood Spot Card. An example can be found here.

Can I customize the genetic testing panels?

Yes, customizable panels can be offered through our AnyPanel™ test offering. Additional details can be found here.

Do you confirm all of genetic testing findings?

All reported variants identified through genetic testing are confirmed using an orthogonal method.

What is your classification process for variants identified through genetic testing?

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

Want to order a test?

OPTION 1: Call: 1800 419 1400
OPTION 2: Email: marketing.dxindia@perkinelmer.com
OPTION 3: Log on to: www.perkinelmergenomics.com/lims

Where are you located?