Biochemical and Metabolic Testing

From biochemical screening to comprehensive genetic testing panels

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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.

Features & Benefits

  • 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

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.

TEST CODE
TEST NAME
NUMBER OF GENES
TURN AROUND TIME
B0200
StepOne® Comprehensive Biochemical Profile
Biochemical
3 days
D3005
NeoSeq Newborn and Pediatric Gene Panel
1722
3 weeks
D3004
Expanded Newborn Screening and Gene Sequencing Panel
275
3 weeks
D3002
Newborn screening (NBS) Gene Sequencing Panel
82
3 weeks
D3003
Newborn Screening and Lysosomal Storage Disease Panel
94
3 weeks
B0024
Post-Mortem Screening Panel
Biochemical
3 days
TEST CODE
B0200
TEST NAME
StepOne® Comprehensive Biochemical Profile
NUMBER OF GENES
Biochemical
TURN AROUND TIME
3 days
TEST CODE
D3005
TEST NAME
NeoSeq Newborn and Pediatric Gene Panel
NUMBER OF GENES
1722
TURN AROUND TIME
3 weeks
TEST CODE
D3004
TEST NAME
Expanded Newborn Screening and Gene Sequencing Panel
NUMBER OF GENES
275
TURN AROUND TIME
3 weeks
TEST CODE
D3002
TEST NAME
Newborn screening (NBS) Gene Sequencing Panel
NUMBER OF GENES
82
TURN AROUND TIME
3 weeks
TEST CODE
D3003
TEST NAME
Newborn Screening and Lysosomal Storage Disease Panel
NUMBER OF GENES
94
TURN AROUND TIME
3 weeks
TEST CODE
B0024
TEST NAME
Post-Mortem Screening Panel
NUMBER OF GENES
Biochemical
TURN AROUND TIME
3 days
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.

TEST CODE
TEST NAME
NUMBER OF GENES
TURN AROUND TIME
B0210
Acylcarnitine Profile
Biochemical
3 days
B2020
Amino Acid Profile
N/A
3 days
B5049
NADK2 Gene Sequencing
1
3 weeks
D5004
ACADSB Gene Sequencing
1
3 weeks
D0410
3-MCC Deficiency Mutation Panel
Targeted Testing
10-12 days
D3007
MCCC1 and MCCC2 Gene Sequencing
2
3 weeks
D5012
AUH Gene Sequencing
1
3 weeks
D5008
ARG1 Gene Sequencing
1
3 weeks
D5010
ASL Gene Sequencing
1
3 weeks
D5005
ACAT1 Gene Sequencing
1
3 weeks
D3009
GCH1 and PTS Gene Sequencing
2
3 weeks
D3008
PCBD1 and QDPR Gene Sequencing
2
3 weeks
D5017
CPT1A Gene Sequencing
1
3 weeks
D5018
CPT2 Gene Sequencing
1
3 weeks
D5056
SLC22A5 Gene Sequencing
1
3 weeks
D5056
SLC25A20 Gene Sequencing
1
3 weeks
D5011
ASS1 Gene Sequencing
1
3 weeks
D5055
SLC25A13 Gene Sequencing
1
3 weeks
D3010
MMAA and MMAB Gene Sequencing
2
3 weeks
D5046
MMACHC Gene Sequencing
1
3 weeks
D5047
MMADHC Gene Sequencing
1
3 weeks
D0406
Glutaric Acidemia Type I Mutation Panel
Targeted Testing
10-12 days
D3011
ETFA, ETFB, and ETFDH Gene Sequencing
3
3 weeks
D5030
GCDH Gene Sequencing
1
3 weeks
D5039
HMGCL Gene Sequencing
1
3 weeks
D5015
CBS Gene Sequencing
1
3 weeks
D5007
ADK Gene Sequencing
1
3 weeks
D5001
ACAD8 Gene Sequencing
1
3 weeks
D0409
Isovaleric Acidemia Mutation Panel
Targeted Testing
10-12 days
D5043
IVD Gene Sequencing
1
3 weeks
D0407
LCHADD Mutation Panel
Targeted Testing
10-12 days
D3012
HADHA and HADHB Gene Sequencing
2
3 weeks
D0401
Maple Syrup Urine Disease Mutation Panel
Targeted Testing
10-12 days
D3013
BCKDHA, BCKDHB, and DBT Gene Sequencing
3
3 weeks
D0400
MCADD Mutation Panel
Targeted Testing
10-12 days
D5002
ACADM Gene Sequencing
1
3 weeks
D0411
Methylmalonic Acidemia Mutation Panel
Targeted Testing
10-12 days
D5048
MUT Gene Sequencing
1
3 weeks
D5038
HLCS Gene Sequencing
1
3 weeks
D5058
SUMF1 Gene Sequencing
1
3 weeks
B0018
PKU Monitoring
Biochemical
3 days
D5050
PAH Gene Sequencing
1
3 weeks
D0412
Propionic Acidemia Mutation Panel
Targeted Testing
10-12 days
D3014
PCCA and PCCB Gene Sequencing
2
3 weeks
D5036
HADH Gene Sequencing
1
3 weeks
D5003
ACADS Gene Sequencing
1
3 weeks
B0022
Tyrosinemia Monitoring
Biochemical
3 days
D5023
FAH Gene Sequencing
1
3 weeks
B0021
Succinylacetone (SUAC) Enzyme Analysis
Biochemical
3 days
D5059
TAT Gene Sequencing
1
3 weeks
D5040
HPD Gene Sequencing
1
3 weeks
D5005
ACADVL Gene Sequencing
1
3 weeks
TEST CODE
B0210
TEST NAME
Acylcarnitine Profile
NUMBER OF GENES
Biochemical
TURN AROUND TIME
3 days
TEST CODE
B2020
TEST NAME
Amino Acid Profile
NUMBER OF GENES
N/A
TURN AROUND TIME
3 days
TEST CODE
B5049
TEST NAME
NADK2 Gene Sequencing
NUMBER OF GENES
1
TURN AROUND TIME
3 weeks
TEST CODE
D5004
TEST NAME
ACADSB Gene Sequencing
NUMBER OF GENES
1
TURN AROUND TIME
3 weeks
TEST CODE
D0410
TEST NAME
3-MCC Deficiency Mutation Panel
NUMBER OF GENES
Targeted Testing
TURN AROUND TIME
10-12 days
TEST CODE
D3007
TEST NAME
MCCC1 and MCCC2 Gene Sequencing
NUMBER OF GENES
2
TURN AROUND TIME
3 weeks
TEST CODE
D5012
TEST NAME
AUH Gene Sequencing
NUMBER OF GENES
1
TURN AROUND TIME
3 weeks
TEST CODE
D5008
TEST NAME
ARG1 Gene Sequencing
NUMBER OF GENES
1
TURN AROUND TIME
3 weeks
TEST CODE
D5010
TEST NAME
ASL Gene Sequencing
NUMBER OF GENES
1
TURN AROUND TIME
3 weeks
TEST CODE
D5005
TEST NAME
ACAT1 Gene Sequencing
NUMBER OF GENES
1
TURN AROUND TIME
3 weeks
TEST CODE
D3009
TEST NAME
GCH1 and PTS Gene Sequencing
NUMBER OF GENES
2
TURN AROUND TIME
3 weeks
TEST CODE
D3008
TEST NAME
PCBD1 and QDPR Gene Sequencing
NUMBER OF GENES
2
TURN AROUND TIME
3 weeks
TEST CODE
D5017
TEST NAME
CPT1A Gene Sequencing
NUMBER OF GENES
1
TURN AROUND TIME
3 weeks
TEST CODE
D5018
TEST NAME
CPT2 Gene Sequencing
NUMBER OF GENES
1
TURN AROUND TIME
3 weeks
TEST CODE
D5056
TEST NAME
SLC22A5 Gene Sequencing
NUMBER OF GENES
1
TURN AROUND TIME
3 weeks
TEST CODE
D5056
TEST NAME
SLC25A20 Gene Sequencing
NUMBER OF GENES
1
TURN AROUND TIME
3 weeks
TEST CODE
D5011
TEST NAME
ASS1 Gene Sequencing
NUMBER OF GENES
1
TURN AROUND TIME
3 weeks
TEST CODE
D5055
TEST NAME
SLC25A13 Gene Sequencing
NUMBER OF GENES
1
TURN AROUND TIME
3 weeks
TEST CODE
D3010
TEST NAME
MMAA and MMAB Gene Sequencing
NUMBER OF GENES
2
TURN AROUND TIME
3 weeks
TEST CODE
D5046
TEST NAME
MMACHC Gene Sequencing
NUMBER OF GENES
1
TURN AROUND TIME
3 weeks
TEST CODE
D5047
TEST NAME
MMADHC Gene Sequencing
NUMBER OF GENES
1
TURN AROUND TIME
3 weeks
TEST CODE
D0406
TEST NAME
Glutaric Acidemia Type I Mutation Panel
NUMBER OF GENES
Targeted Testing
TURN AROUND TIME
10-12 days
TEST CODE
D3011
TEST NAME
ETFA, ETFB, and ETFDH Gene Sequencing
NUMBER OF GENES
3
TURN AROUND TIME
3 weeks
TEST CODE
D5030
TEST NAME
GCDH Gene Sequencing
NUMBER OF GENES
1
TURN AROUND TIME
3 weeks
TEST CODE
D5039
TEST NAME
HMGCL Gene Sequencing
NUMBER OF GENES
1
TURN AROUND TIME
3 weeks
TEST CODE
D5015
TEST NAME
CBS Gene Sequencing
NUMBER OF GENES
1
TURN AROUND TIME
3 weeks
TEST CODE
D5007
TEST NAME
ADK Gene Sequencing
NUMBER OF GENES
1
TURN AROUND TIME
3 weeks
TEST CODE
D5001
TEST NAME
ACAD8 Gene Sequencing
NUMBER OF GENES
1
TURN AROUND TIME
3 weeks
TEST CODE
D0409
TEST NAME
Isovaleric Acidemia Mutation Panel
NUMBER OF GENES
Targeted Testing
TURN AROUND TIME
10-12 days
TEST CODE
D5043
TEST NAME
IVD Gene Sequencing
NUMBER OF GENES
1
TURN AROUND TIME
3 weeks
TEST CODE
D0407
TEST NAME
LCHADD Mutation Panel
NUMBER OF GENES
Targeted Testing
TURN AROUND TIME
10-12 days
TEST CODE
D3012
TEST NAME
HADHA and HADHB Gene Sequencing
NUMBER OF GENES
2
TURN AROUND TIME
3 weeks
TEST CODE
D0401
TEST NAME
Maple Syrup Urine Disease Mutation Panel
NUMBER OF GENES
Targeted Testing
TURN AROUND TIME
10-12 days
TEST CODE
D3013
TEST NAME
BCKDHA, BCKDHB, and DBT Gene Sequencing
NUMBER OF GENES
3
TURN AROUND TIME
3 weeks
TEST CODE
D0400
TEST NAME
MCADD Mutation Panel
NUMBER OF GENES
Targeted Testing
TURN AROUND TIME
10-12 days
TEST CODE
D5002
TEST NAME
ACADM Gene Sequencing
NUMBER OF GENES
1
TURN AROUND TIME
3 weeks
TEST CODE
D0411
TEST NAME
Methylmalonic Acidemia Mutation Panel
NUMBER OF GENES
Targeted Testing
TURN AROUND TIME
10-12 days
TEST CODE
D5048
TEST NAME
MUT Gene Sequencing
NUMBER OF GENES
1
TURN AROUND TIME
3 weeks
TEST CODE
D5038
TEST NAME
HLCS Gene Sequencing
NUMBER OF GENES
1
TURN AROUND TIME
3 weeks
TEST CODE
D5058
TEST NAME
SUMF1 Gene Sequencing
NUMBER OF GENES
1
TURN AROUND TIME
3 weeks
TEST CODE
B0018
TEST NAME
PKU Monitoring
NUMBER OF GENES
Biochemical
TURN AROUND TIME
3 days
TEST CODE
D5050
TEST NAME
PAH Gene Sequencing
NUMBER OF GENES
1
TURN AROUND TIME
3 weeks
TEST CODE
D0412
TEST NAME
Propionic Acidemia Mutation Panel
NUMBER OF GENES
Targeted Testing
TURN AROUND TIME
10-12 days
TEST CODE
D3014
TEST NAME
PCCA and PCCB Gene Sequencing
NUMBER OF GENES
2
TURN AROUND TIME
3 weeks
TEST CODE
D5036
TEST NAME
HADH Gene Sequencing
NUMBER OF GENES
1
TURN AROUND TIME
3 weeks
TEST CODE
D5003
TEST NAME
ACADS Gene Sequencing
NUMBER OF GENES
1
TURN AROUND TIME
3 weeks
TEST CODE
B0022
TEST NAME
Tyrosinemia Monitoring
NUMBER OF GENES
Biochemical
TURN AROUND TIME
3 days
TEST CODE
D5023
TEST NAME
FAH Gene Sequencing
NUMBER OF GENES
1
TURN AROUND TIME
3 weeks
TEST CODE
B0021
TEST NAME
Succinylacetone (SUAC) Enzyme Analysis
NUMBER OF GENES
Biochemical
TURN AROUND TIME
3 days
TEST CODE
D5059
TEST NAME
TAT Gene Sequencing
NUMBER OF GENES
1
TURN AROUND TIME
3 weeks
TEST CODE
D5040
TEST NAME
HPD Gene Sequencing
NUMBER OF GENES
1
TURN AROUND TIME
3 weeks
TEST CODE
D5005
TEST NAME
ACADVL Gene Sequencing
NUMBER OF GENES
1
TURN AROUND TIME
3 weeks
Biotinidase Deficiency

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

TEST CODE
TEST NAME
NUMBER OF GENES
TURN AROUND TIME
B0001
Biotinidase Deficiency Enzyme Analysis (Complete/Partial)
Biochemical
3 days
D0402
Biotinidase Deficiency Mutation Panel
Targeted Testing
10-12 days
D5014
BTD Gene Sequencing
1
3 weeks
TEST CODE
B0001
TEST NAME
Biotinidase Deficiency Enzyme Analysis (Complete/Partial)
NUMBER OF GENES
Biochemical
TURN AROUND TIME
3 days
TEST CODE
D0402
TEST NAME
Biotinidase Deficiency Mutation Panel
NUMBER OF GENES
Targeted Testing
TURN AROUND TIME
10-12 days
TEST CODE
D5014
TEST NAME
BTD Gene Sequencing
NUMBER OF GENES
1
TURN AROUND TIME
3 weeks
Cystic Fibrosis

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

TEST CODE
TEST NAME
NUMBER OF GENES
TURN AROUND TIME
B0005
IRT Analysis (Not valid after 90 days of age)
Biochemical
3 days
D0403
Cystic Fibrosis Mutation Panel
Targeted Testing
10-12 days
D5016
CFTR Gene Sequencing
1
3 weeks
TEST CODE
B0005
TEST NAME
IRT Analysis (Not valid after 90 days of age)
NUMBER OF GENES
Biochemical
TURN AROUND TIME
3 days
TEST CODE
D0403
TEST NAME
Cystic Fibrosis Mutation Panel
NUMBER OF GENES
Targeted Testing
TURN AROUND TIME
10-12 days
TEST CODE
D5016
TEST NAME
CFTR Gene Sequencing
NUMBER OF GENES
1
TURN AROUND TIME
3 weeks
Duchenne Muscular Dystrophy

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

TEST CODE
TEST NAME
NUMBER OF GENES
TURN AROUND TIME
B0006
Duchenne Muscular Dystrophy Creatine Kinase Activity
Biochemical
3 days
D4038
DMD Carrier Deletion/ Duplication Testing by MLPA
Targeted Testing
10-12 days
D5020
DMD Del/Dup Testing by MLPA
1
10-12 days
D4045
DMD Gene Sequencing and Del/Dup Testing (by NGS)
1
3 weeks
TEST CODE
B0006
TEST NAME
Duchenne Muscular Dystrophy Creatine Kinase Activity
NUMBER OF GENES
Biochemical
TURN AROUND TIME
3 days
TEST CODE
D4038
TEST NAME
DMD Carrier Deletion/ Duplication Testing by MLPA
NUMBER OF GENES
Targeted Testing
TURN AROUND TIME
10-12 days
TEST CODE
D5020
TEST NAME
DMD Del/Dup Testing by MLPA
NUMBER OF GENES
1
TURN AROUND TIME
10-12 days
TEST CODE
D4045
TEST NAME
DMD Gene Sequencing and Del/Dup Testing (by NGS)
NUMBER OF GENES
1
TURN AROUND TIME
3 weeks
Galactosemia

Available biochemical and genetic testing options available for suspected Galactosemia.

TEST CODE
TEST NAME
NUMBER OF GENES
TURN AROUND TIME
B0009
Galactosemia Monitoring
Biochemical
3 days
D0405
Galactosemia Mutation Panel
Targeted Testing
10-12 days
D5027
GALK Gene Sequencing
1
3 weeks
D5029
GALT Gene Sequencing
1
3 weeks
D5026
GALE Gene Sequencing
1
3 weeks
TEST CODE
B0009
TEST NAME
Galactosemia Monitoring
NUMBER OF GENES
Biochemical
TURN AROUND TIME
3 days
TEST CODE
D0405
TEST NAME
Galactosemia Mutation Panel
NUMBER OF GENES
Targeted Testing
TURN AROUND TIME
10-12 days
TEST CODE
D5027
TEST NAME
GALK Gene Sequencing
NUMBER OF GENES
1
TURN AROUND TIME
3 weeks
TEST CODE
D5029
TEST NAME
GALT Gene Sequencing
NUMBER OF GENES
1
TURN AROUND TIME
3 weeks
TEST CODE
D5026
TEST NAME
GALE Gene Sequencing
NUMBER OF GENES
1
TURN AROUND TIME
3 weeks
Glucose-6-phosphate Dehydrogenase Deficiency

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

TEST CODE
TEST NAME
NUMBER OF GENES
TURN AROUND TIME
B0011
Glucose-6-phosphate Dehyrogenase Deficiency (screening only)
Biochemical
3 days
D0404
Glucose-6-phosphate Dehyrogenase Deficiency Mutation Panel
Targeted Testing
10-12 days
D5024
G6PD Gene Sequencing
1
3 weeks
TEST CODE
B0011
TEST NAME
Glucose-6-phosphate Dehyrogenase Deficiency (screening only)
NUMBER OF GENES
Biochemical
TURN AROUND TIME
3 days
TEST CODE
D0404
TEST NAME
Glucose-6-phosphate Dehyrogenase Deficiency Mutation Panel
NUMBER OF GENES
Targeted Testing
TURN AROUND TIME
10-12 days
TEST CODE
D5024
TEST NAME
G6PD Gene Sequencing
NUMBER OF GENES
1
TURN AROUND TIME
3 weeks
Lysosomal Storage Diseases

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

TEST CODE
TEST NAME
NUMBER OF GENES
TURN AROUND TIME
D3001
Lysosomal Storage Disorder Gene Sequencing Panel (12 Genes)
12
3 weeks
B2040
Lysosomal Storage Disease 6-plex Enzyme Panel
Biochemical
3 days
B2041
Lysosomal Storage Disease 7-plex Enzyme Panel
Biochemical
3 days
D5033
GLA Gene Sequencing
1
3 weeks
B0007
Alpha-Galactosidase A Enzyme Analysis
Biochemical
3 days
B0010
Glucocerebrosidase (Glucosylceramidase) Enzyme Analysis
Biochemical
3 days
D5032
GBA Gene Sequencing
1
3 weeks
B0012
Galactocerebrosidase Enzyme Analysis
Biochemical
3 days
D5031
GALC Gene Sequencing
1
3 weeks
B0013
Alpha-L-Iduronidase Enzyme Analysis
Biochemical
3 days
B0014
Iduronate 2-Sulfatase Enzyme Analysis
Biochemical
3 days
D5041
IDUA Gene Sequencing
1
3 weeks
D5042
IDS Gene Sequencing
1
3 weeks
B0015
Galactosamine-6-Sulfatase Enzyme Analysis
Biochemical
3 days
D5028
GALNS Gene Sequencing
1
3 weeks
B0025
Beta-galactosidase Enzyme Analysis
Biochemical
3 days
D5034
GLB1 Gene Sequencing
1
3 weeks
B0016
Arylsulfatase B Enzyme Analysis
Biochemical
3 days
D5009
ARSB Gene Sequencing
1
3 weeks
D5035
GUSB Gene Sequencing
1
3 weeks
D5058
SUMF1 Gene Sequencing
1
3 weeks
B0017
ACID Sphingomyelinase Enzyme Analysis
Biochemical
3 days
D5057
SMPD1 Gene Sequencing
1
3 weeks
B0019
ACID Alpha-Glucosidase Enzyme Analysis
Biochemical
3 days
D5025
GAA Gene Sequencing
1
3 weeks
TEST CODE
D3001
TEST NAME
Lysosomal Storage Disorder Gene Sequencing Panel (12 Genes)
NUMBER OF GENES
12
TURN AROUND TIME
3 weeks
TEST CODE
B2040
TEST NAME
Lysosomal Storage Disease 6-plex Enzyme Panel
NUMBER OF GENES
Biochemical
TURN AROUND TIME
3 days
TEST CODE
B2041
TEST NAME
Lysosomal Storage Disease 7-plex Enzyme Panel
NUMBER OF GENES
Biochemical
TURN AROUND TIME
3 days
TEST CODE
D5033
TEST NAME
GLA Gene Sequencing
NUMBER OF GENES
1
TURN AROUND TIME
3 weeks
TEST CODE
B0007
TEST NAME
Alpha-Galactosidase A Enzyme Analysis
NUMBER OF GENES
Biochemical
TURN AROUND TIME
3 days
TEST CODE
B0010
TEST NAME
Glucocerebrosidase (Glucosylceramidase) Enzyme Analysis
NUMBER OF GENES
Biochemical
TURN AROUND TIME
3 days
TEST CODE
D5032
TEST NAME
GBA Gene Sequencing
NUMBER OF GENES
1
TURN AROUND TIME
3 weeks
TEST CODE
B0012
TEST NAME
Galactocerebrosidase Enzyme Analysis
NUMBER OF GENES
Biochemical
TURN AROUND TIME
3 days
TEST CODE
D5031
TEST NAME
GALC Gene Sequencing
NUMBER OF GENES
1
TURN AROUND TIME
3 weeks
TEST CODE
B0013
TEST NAME
Alpha-L-Iduronidase Enzyme Analysis
NUMBER OF GENES
Biochemical
TURN AROUND TIME
3 days
TEST CODE
B0014
TEST NAME
Iduronate 2-Sulfatase Enzyme Analysis
NUMBER OF GENES
Biochemical
TURN AROUND TIME
3 days
TEST CODE
D5041
TEST NAME
IDUA Gene Sequencing
NUMBER OF GENES
1
TURN AROUND TIME
3 weeks
TEST CODE
D5042
TEST NAME
IDS Gene Sequencing
NUMBER OF GENES
1
TURN AROUND TIME
3 weeks
TEST CODE
B0015
TEST NAME
Galactosamine-6-Sulfatase Enzyme Analysis
NUMBER OF GENES
Biochemical
TURN AROUND TIME
3 days
TEST CODE
D5028
TEST NAME
GALNS Gene Sequencing
NUMBER OF GENES
1
TURN AROUND TIME
3 weeks
TEST CODE
B0025
TEST NAME
Beta-galactosidase Enzyme Analysis
NUMBER OF GENES
Biochemical
TURN AROUND TIME
3 days
TEST CODE
D5034
TEST NAME
GLB1 Gene Sequencing
NUMBER OF GENES
1
TURN AROUND TIME
3 weeks
TEST CODE
B0016
TEST NAME
Arylsulfatase B Enzyme Analysis
NUMBER OF GENES
Biochemical
TURN AROUND TIME
3 days
TEST CODE
D5009
TEST NAME
ARSB Gene Sequencing
NUMBER OF GENES
1
TURN AROUND TIME
3 weeks
TEST CODE
D5035
TEST NAME
GUSB Gene Sequencing
NUMBER OF GENES
1
TURN AROUND TIME
3 weeks
TEST CODE
D5058
TEST NAME
SUMF1 Gene Sequencing
NUMBER OF GENES
1
TURN AROUND TIME
3 weeks
TEST CODE
B0017
TEST NAME
ACID Sphingomyelinase Enzyme Analysis
NUMBER OF GENES
Biochemical
TURN AROUND TIME
3 days
TEST CODE
D5057
TEST NAME
SMPD1 Gene Sequencing
NUMBER OF GENES
1
TURN AROUND TIME
3 weeks
TEST CODE
B0019
TEST NAME
ACID Alpha-Glucosidase Enzyme Analysis
NUMBER OF GENES
Biochemical
TURN AROUND TIME
3 days
TEST CODE
D5025
TEST NAME
GAA Gene Sequencing
NUMBER OF GENES
1
TURN AROUND TIME
3 weeks
Severe Combined Immunodeficiency (SCID)

Available biochemical and genetic testing options available for suspected SCID.

TEST CODE
TEST NAME
NUMBER OF GENES
TURN AROUND TIME
D0416
Severe Combined Immunodeficiency - TREC Assay
N/A
3 days
D3006
SCID Gene Sequencing Panel (26 Genes)
26
3 days
D5060
ADA Gene Sequencing
1
3 weeks
D5061
AK2 Gene Sequencing
1
3 weeks
D5095
ATM Gene Sequencing
1
3 weeks
D5063
CD3D Gene Sequencing
1
3 weeks
D5064
CD3E Gene Sequencing
1
3 weeks
D5065
CD3Z Gene Sequencing
1
3 weeks
D5066
CORO1A Gene Sequencing
1
3 weeks
D5067
DCLRE1C (Artemis) Gene Sequencing
1
3 weeks
D5068
DOCK8 Gene Sequencing
1
3 weeks
D5069
FOXN1 Gene Sequencing
1
3 weeks
D5070
IL2RG SGene Sequencing
1
3 weeks
D5071
IL7R Gene Sequencing
1
3 weeks
D5072
JAK3 Gene Sequencing
1
3 weeks
D5073
LIG4 Gene Sequencing
1
3 weeks
D5074
NHEJ1 Gene Sequencing
1
3 weeks
D5075
ORAI1 Gene Sequencing
1
3 weeks
D5076
PNP Gene Sequencing
1
3 weeks
D5077
PRKDC Gene Sequencing
1
3 weeks
D5078
PTPRC Gene Sequencing
1
3 weeks
D5081
RAG2 Gene Sequencing
1
3 weeks
D5080
RAG1 Gene Sequencing
1
3 weeks
D5079
RAC2 Gene Sequencing
1
3 weeks
D5082
RMRP Gene Sequencing
1
3 weeks
D5083
STIM1 Gene Sequencing
1
3 weeks
D5084
TBX1 Gene Sequencing
1
3 weeks
D5085
ZAP70 Gene Sequencing
1
3 weeks
TEST CODE
D0416
TEST NAME
Severe Combined Immunodeficiency - TREC Assay
NUMBER OF GENES
N/A
TURN AROUND TIME
3 days
TEST CODE
D3006
TEST NAME
SCID Gene Sequencing Panel (26 Genes)
NUMBER OF GENES
26
TURN AROUND TIME
3 days
TEST CODE
D5060
TEST NAME
ADA Gene Sequencing
NUMBER OF GENES
1
TURN AROUND TIME
3 weeks
TEST CODE
D5061
TEST NAME
AK2 Gene Sequencing
NUMBER OF GENES
1
TURN AROUND TIME
3 weeks
TEST CODE
D5095
TEST NAME
ATM Gene Sequencing
NUMBER OF GENES
1
TURN AROUND TIME
3 weeks
TEST CODE
D5063
TEST NAME
CD3D Gene Sequencing
NUMBER OF GENES
1
TURN AROUND TIME
3 weeks
TEST CODE
D5064
TEST NAME
CD3E Gene Sequencing
NUMBER OF GENES
1
TURN AROUND TIME
3 weeks
TEST CODE
D5065
TEST NAME
CD3Z Gene Sequencing
NUMBER OF GENES
1
TURN AROUND TIME
3 weeks
TEST CODE
D5066
TEST NAME
CORO1A Gene Sequencing
NUMBER OF GENES
1
TURN AROUND TIME
3 weeks
TEST CODE
D5067
TEST NAME
DCLRE1C (Artemis) Gene Sequencing
NUMBER OF GENES
1
TURN AROUND TIME
3 weeks
TEST CODE
D5068
TEST NAME
DOCK8 Gene Sequencing
NUMBER OF GENES
1
TURN AROUND TIME
3 weeks
TEST CODE
D5069
TEST NAME
FOXN1 Gene Sequencing
NUMBER OF GENES
1
TURN AROUND TIME
3 weeks
TEST CODE
D5070
TEST NAME
IL2RG SGene Sequencing
NUMBER OF GENES
1
TURN AROUND TIME
3 weeks
TEST CODE
D5071
TEST NAME
IL7R Gene Sequencing
NUMBER OF GENES
1
TURN AROUND TIME
3 weeks
TEST CODE
D5072
TEST NAME
JAK3 Gene Sequencing
NUMBER OF GENES
1
TURN AROUND TIME
3 weeks
TEST CODE
D5073
TEST NAME
LIG4 Gene Sequencing
NUMBER OF GENES
1
TURN AROUND TIME
3 weeks
TEST CODE
D5074
TEST NAME
NHEJ1 Gene Sequencing
NUMBER OF GENES
1
TURN AROUND TIME
3 weeks
TEST CODE
D5075
TEST NAME
ORAI1 Gene Sequencing
NUMBER OF GENES
1
TURN AROUND TIME
3 weeks
TEST CODE
D5076
TEST NAME
PNP Gene Sequencing
NUMBER OF GENES
1
TURN AROUND TIME
3 weeks
TEST CODE
D5077
TEST NAME
PRKDC Gene Sequencing
NUMBER OF GENES
1
TURN AROUND TIME
3 weeks
TEST CODE
D5078
TEST NAME
PTPRC Gene Sequencing
NUMBER OF GENES
1
TURN AROUND TIME
3 weeks
TEST CODE
D5081
TEST NAME
RAG2 Gene Sequencing
NUMBER OF GENES
1
TURN AROUND TIME
3 weeks
TEST CODE
D5080
TEST NAME
RAG1 Gene Sequencing
NUMBER OF GENES
1
TURN AROUND TIME
3 weeks
TEST CODE
D5079
TEST NAME
RAC2 Gene Sequencing
NUMBER OF GENES
1
TURN AROUND TIME
3 weeks
TEST CODE
D5082
TEST NAME
RMRP Gene Sequencing
NUMBER OF GENES
1
TURN AROUND TIME
3 weeks
TEST CODE
D5083
TEST NAME
STIM1 Gene Sequencing
NUMBER OF GENES
1
TURN AROUND TIME
3 weeks
TEST CODE
D5084
TEST NAME
TBX1 Gene Sequencing
NUMBER OF GENES
1
TURN AROUND TIME
3 weeks
TEST CODE
D5085
TEST NAME
ZAP70 Gene Sequencing
NUMBER OF GENES
1
TURN AROUND TIME
3 weeks
Sickle Cell and Other Hemoglobinopathies

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

TEST CODE
TEST NAME
NUMBER OF GENES
TURN AROUND TIME
B0020
Sickle Cell and Other Hemoglobinopathies
N/A
3 days
D0408
Sickle Cell and Other Hemoglobinopathies Mutation Panel
Targeted Testing
10-12 days
TEST CODE
B0020
TEST NAME
Sickle Cell and Other Hemoglobinopathies
NUMBER OF GENES
N/A
TURN AROUND TIME
3 days
TEST CODE
D0408
TEST NAME
Sickle Cell and Other Hemoglobinopathies Mutation Panel
NUMBER OF GENES
Targeted Testing
TURN AROUND TIME
10-12 days
Spinal Muscular Atrophy (SMA)

Available biochemical and genetic testing options available for suspected SMA.

TEST CODE
TEST NAME
NUMBER OF GENES
TURN AROUND TIME
D0413
SMN1 Diagnostic Testing (by MLPA)
1
10-12 days
D0414
SMN1 Carrier Testing (by MLPA)
Targeted Testing
10-12 days
D0415
SMN2 Copy Number Testing (by MLPA)
1
10-12 days
TEST CODE
D0413
TEST NAME
SMN1 Diagnostic Testing (by MLPA)
NUMBER OF GENES
1
TURN AROUND TIME
10-12 days
TEST CODE
D0414
TEST NAME
SMN1 Carrier Testing (by MLPA)
NUMBER OF GENES
Targeted Testing
TURN AROUND TIME
10-12 days
TEST CODE
D0415
TEST NAME
SMN2 Copy Number Testing (by MLPA)
NUMBER OF GENES
1
TURN AROUND TIME
10-12 days
Other
TEST CODE
TEST NAME
NUMBER OF GENES
TURN AROUND TIME
B0002
Congenital Adrenal Hyperplasia - 17Α Hydroxyprogesterone (17 OHP)
Biochemical
3 days
B0004
Thyroxine (T4)
Biochemical
3 days
B0003
Thyroid-Stimulating Hormone (TSH)
Biochemical
3 days
D5019
CYP21A2 Gene Sequencing and Del/Dup Testing (by MLPA)
1
3 weeks
B0023
X-linked Adrenoleukodystrophy - C26:0 Lysophosphatidylcholine
Biochemical
3 days
D4042
FMR1 Triplet Repeat (CGG) Testing
1
10-12 days
D4044
ABCD1 Gene Sequencing
1
3 weeks
TEST CODE
B0002
TEST NAME
Congenital Adrenal Hyperplasia - 17Α Hydroxyprogesterone (17 OHP)
NUMBER OF GENES
Biochemical
TURN AROUND TIME
3 days
TEST CODE
B0004
TEST NAME
Thyroxine (T4)
NUMBER OF GENES
Biochemical
TURN AROUND TIME
3 days
TEST CODE
B0003
TEST NAME
Thyroid-Stimulating Hormone (TSH)
NUMBER OF GENES
Biochemical
TURN AROUND TIME
3 days
TEST CODE
D5019
TEST NAME
CYP21A2 Gene Sequencing and Del/Dup Testing (by MLPA)
NUMBER OF GENES
1
TURN AROUND TIME
3 weeks
TEST CODE
B0023
TEST NAME
X-linked Adrenoleukodystrophy - C26:0 Lysophosphatidylcholine
NUMBER OF GENES
Biochemical
TURN AROUND TIME
3 days
TEST CODE
D4042
TEST NAME
FMR1 Triplet Repeat (CGG) Testing
NUMBER OF GENES
1
TURN AROUND TIME
10-12 days
TEST CODE
D4044
TEST NAME
ABCD1 Gene Sequencing
NUMBER OF GENES
1
TURN AROUND TIME
3 weeks
Custom Panel

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.

TEST CODE
TEST NAME
NUMBER OF GENES
TURN AROUND TIME
D3000
AnyPanel – Custom
N/A
3 weeks
TEST CODE
D3000
TEST NAME
AnyPanel – Custom
NUMBER OF GENES
N/A
TURN AROUND TIME
3 weeks

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 1-866-354-2910.

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: Saliva Swabs, Dried Blood Spots, Whole Blood, 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.

How to Order

  1. Select the correct test for your patient, and fill out the General Test Requisition Form.
    • Please make sure that all sections are completely and that the patient has signed an informed consent form.
  2. Obtain a sample for testing from the patient using one of the provided PerkinElmer Genomics test packs. If you do not have a kit available in your office, please contact us here. and we can have sent out to your office.
    • Ensure that the patient sample is labeled with the patient name and date of birth.
    • Please note that all biochemical assays require a dried blood spot sample.
  3. Package the patient sample, informed consent form, and test requisition form back into the test kit, and utilize the included pre-paid shipping label to return the kit to PerkinElmer Genomics for processing.
    • As a patient’s clinical presentation is an essential part of fully interpreting genetic test results, we ask that you kindly include any applicable medical records or clinical notes with the sample at the time of test submission.

Where are you located?