Molecular Genetics

PerkinElmer Genetics is a global leader in screening and genetic testing services. We offer the latest in advanced technologies coupled with the expertise and resources to deliver the results that you need and will benefit the patient. See below for a list of all of the biochemical and molecular genetic testing that is offered.

Metabolic/NBS Disorders
Test CodeDescriptionSpecimenTurn Around Time
LSDSLYSOSOMAL STORAGE DISORDER (LSD) GENE SEQUENCING PANEL (12 GENES)DBS, WB, SV3 weeks
NBSSNEWBORN SCREENING (NBS) GENE SEQUENCING PANEL (82 GENES)DBS, WB, SV3 weeks
NBSLSDSNBS AND LSD GENE SEQUENCING PANEL (94 GENES)DBS, WB, SV3 weeks
SCIDSSEVERE COMBINED IMMUNODEFICIENCY (SCID) GENE SEQUENCING PANEL (26 GENES)DBS, WB, SV3 weeks
MCCS3-METHYLCRONTONYL-COA-CARBOXYLASE DEFICIENCY: MCCC1, MCCC2 GENE SEQUENCINGDBS, WB, SV10-12 days
BIOPRECSBIOPTERIN DEFECT IN COFACTOR RECYCLING: PCBD1, QDPR GENE SEQUENCINGDBS, WB, SV10-12 days
BIOPSYNSBIOPTERIN DEFECT IN COFACTOR SYNTHESIS: GCH1, PTS GENE SEQUENCINGDBS, WB, SV10-12 days
MMASCOBALAMIN A / B DEFICIENCY: MMAA, MMAB GENE SEQUENCINGDBS, WB, SV10-12 days
GA2SGLUTARIC ACIDEMIA TYPE II: ETFA, ETFB, ETFDH GENE SEQUENCINGDBS, WB, SV10-12 days
LCHADSLONG-CHAIN 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY: HADHA, HADHB GENE SEQUENCINGDBS, WB, SV10-12 days
MSUDSMAPLE SYRUP URINE DISEASE: BCKDHA, BCKDHB, DBT GENE SEQUENCINGDBS, WB, SV10-12 days
PCCSPROPIONIC ACIDEMIA: PCCA, PCCB GENE SEQUENCINGDBS, WB, SV10-12 days


Newborn and Pediatric Disease Panels
Test CodeDescriptionSpecimenTurn Around Time
NBSSNEWBORN SCREENING (NBS) GENE SEQUENCING PANEL (82 GENES)DBS, WB, SV3 weeks
NBSLSDSNBS AND LSD GENE SEQUENCING PANEL (94 GENES)DBS, WB, SV3 weeks
NBSSEXPExpanded Newborn screening (NBS) gene sequencing panel (275 genes)*DBS, WB, SV3 weeks
NEOSEQNEOSeq newborn and pediatric disease gene sequencing panel (1722 genes)*DBS, WB, SV3 weeks

*For single gene or custom panel orders, please contact the laboratory.


Metabolic Disorders - Single Gene Sequencing Or Mutation Panel
Test CodeDescriptionSpecimenTurn Around Time
XALDSABCD1 XALD GENE SEQUENCINGDBS, WB, SV10-12 days
ACAD8SACAD8 ISOBUTYRYL-COA DEHYDROGENASE DEFICIENCY GENE SEQUENCINGDBS, WB, SV10-12 days
MCADNAACADM - MCADD MUTATION PANELDBS, WB, SV10-12 days
MCADSACADM MCADD GENE SEQUENCINGDBS, WB, SV10-12 days
SCADSACADS SCADD GENE SEQUENCINGDBS, WB, SV10-12 days
ACADSBSACADSB 2-METHYLBUTYRYL GLYCINURIA GENE SEQUENCINGDBS, WB, SV10-12 days
ACADVLSACADVL VERY LONG CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY GENE SEQUENCINGDBS, WB, SV10-12 days
ACAT1SACAT1 BETA-KETOTHIOLASE DEFICIENCY GENE SEQUENCINGDBS, WB, SV10-12 days
ADKSADK HYPERMETHIONINEMIA GENE SEQUENCINGDBS, WB, SV10-12 days
ARG1SARG1 ARGININEMIA GENE SEQUENCINGDBS, WB, SV10-12 days
ARSBSARSB MPS VI (MAROTEAUX-LAMY SYNDROME) GENE SEQUENCINGDBS, WB, SV10-12 days
ASLSASL ARGININOSUCCINIC ACIDURIA GENE SEQUENCINGDBS, WB, SV10-12 days
ASS1SASS1 CITRULLINEMIA TYPE I GENE SEQUENCINGDBS, WB, SV10-12 days
AUHSAUH 2-METHYLGLUTACONIC ACIDURIA GENE SEQUENCINGDBS, WB, SV10-12 days
MSUDNABCKDHA - MAPLE SYRUP URINE DISEASE MUTATION ANALYSISDBS, WB, SV10-12 days
MSUDSBCKDHA, BCKDHB, DBT MSUD GENE SEQUENCINGDBS, WB, SV10-12 days
BIODNABTD - BIOTINIDASE DEFICIENCY MUTATION PANELDBS, WB, SV10-12 days
BIOSBTD BIOTINIDASE GENE SEQUENCINGDBS, WB, SV10-12 days
CBSSCBS HOMOCYSTINURIA GENE SEQUENCINGDBS, WB, SV10-12 days
IRTEXTCFTR - CYSTIC FIBROSIS MUTATION PANELDBS, WB, SV10-12 days
CFTRSCFTR CYSTIC FIBROSIS GENE SEQUENCINGDBS, WB, SV10-12 days
CPT1ASCPT1A CARNITINE PALMITOYL TRANSFERASE 1A DEFICIENCY GENE SEQUENCINGDBS, WB, SV10-12 days
CPT2SCPT2 CARNITINE PALMITOYL TRANSFERASE II DEFICIENCY GENE SEQUENCINGDBS, WB, SV10-12 days
17OHPSCYP21A2 CAH GENE SEQUENCING AND DEL/DUP (MLPA)DBS, WB, SV10-12 days
DMDDMD DUCHENNE MUSCULAR DYSTROPHY DELETION/DUPLICATIONDBS, WB, SV10-12 days
DMDSDMD DUCHENNE MUSCULAR DYSTROPHY GENE SEQUENCINGDBS, WB, SV10-12 days
GA2SETFA, ETFB, ETFDH GLUTARIC ACIDEMIA TYPE II GENE SEQUENCINGDBS, WB, SV10-12 days
FAHSFAH TYROSINEMIA TYPE I GENE SEQUENCINGDBS, WB, SV10-12 days
G6DNAG6PD - GLUCOSE-6-PHOSPHATE DEHYDROGENASE DEFICIENCY MUTATION PANELDBS, WB, SV10-12 days
G6PDSG6PD GENE SEQUENCINGDBS, WB, SV10-12 days
GAASGAA POMPE DISEASE GENE SEQUENCINGDBS, WB, SV10-12 days
GALESGALE GALACTOEPIMERASE DEFICIENCY GENE SEQUENCINGDBS, WB, SV10-12 days
GALKSGALK GALACTOKINASE DEFICIENCY GENE SEQUENCINGDBS, WB, SV10-12 days
GALNSSGALNS MPS IVA (MORQUIO SYNDROME A) GENE SEQUENCINGDBS, WB, SV10-12 days
GALDNAGALT - GALACTOSEMIA MUTATION PANELDBS, WB, SV10-12 days
GALTSGALT GALACTOSEMIA GENE SEQUENCINGDBS, WB, SV10-12 days
GA1DNAGCDH - GLUTARIC ACIDEMIA TYPE I MUTATION PANELDBS, WB, SV10-12 days
GA1SGCDH GA1 GENE SEQUENCINGDBS, WB, SV10-12 days
GALCSGALC KRABBE DISEASE GENE SEQUENCINGDBS, WB, SV10-12 days
GBASGBA GAUCHER DISEASE GENE SEQUENCINGDBS, WB, SV10-12 days
GLASGLA FABRY DISEASE GENE SEQUENCINGDBS, WB, SV10-12 days
GLB1SGLB1 MPS IVB (GM1 GANGLIOSIDOSIS) GENE SEQUENCINGDBS, WB, SV10-12 days
GUSBSGUSB, MPS VII GENE SEQUENCINGDBS, WB, SV10-12 days
HADHSHADH M/SCHADD GENE SEQUENCINGDBS, WB, SV10-12 days
LCHADDHADHA- LONG CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY MUTATION ANALYSISDBS, WB, SV10-12 days
LCHADSHADHA, HADHB LCHADD GENE SEQUENCINGDBS, WB, SV10-12 days
HGBDNAHBB - SICKLE CELL & OTHER HEMOGLOBINOPATHIES MUTATION PANELDBS, WB, SV10-12 days
HLCSSHLCS MULTIPLE CARBOXYLASE DEFICIENCY GENE SEQUENCINGDBS, WB, SV10-12 days
HMGCLSHMGCL HMG-COA LYASE DEFICIENCY GENE SEQUENCINGDBS, WB, SV10-12 days
HPDSHPD TYROSINEMIA TYPE III GENE SEQUENCINGDBS, WB, SV10-12 days
IDUASIDUA MPS I (HURLER SYNDROME) GENE SEQUENCINGDBS, WB, SV10-12 days
IDSSIDS MPS II (HUNTER SYNDROME) GENE SEQUENCINGDBS, WB, SV10-12 days
IVADNAIVD - ISOVALERIC ACIDEMIA MUTATION ANALYSISDBS, WB, SV10-12 days
IVASIVD IVA GENE SEQUENCINGDBS, WB, SV10-12 days
MCCDNAMCCC2 - 3-METHYLCROTONYL-COA CARBOXYLASE DEFICIENCY MUTATION ANALYSISDBS, WB, SV10-12 days
MCCSMCCC1, MCCC2 MCC GENE SEQUENCINGDBS, WB, SV10-12 days
MMASMMAA, MMAB COBALAMIN A / B DEFICIENCY GENE SEQUENCINGDBS, WB, SV10-12 days
MMACHCSMMACHC COBALAMIN C DEFICIENCY GENE SEQUENCINGDBS, WB, SV10-12 days
MMADHCSMMADHC COBALAMIN D DEFICIENCY GENE SEQUENCINGDBS, WB, SV10-12 days
MMADNAMUT - METHYLMALONIC ACIDEMIA MUTATION PANELDBS, WB, SV10-12 days
MUTSMUT METHYLMALONIC ACIDEMIA (MUTASE DEFICIENCY) GENE SEQUENCINGDBS, WB, SV10-12 days
NADK2SNADK2 2,4 DIENOYL-COA REDUCTASE DEFICIENCY GENE SEQUENCINGDBS, WB, SV10-12 days
PAHSPAH PKU GENE SEQUENCINGDBS, WB, SV10-12 days
BIOPRECSPCBD1, QDPR BIOPTERIN DEFECT IN COFACTOR RECYCLING GENE SEQUENCINGDBS, WB, SV10-12 days
BIOPSYNSGCH1, PTS BIOPTERIN DEFECT IN COFACTOR SYNTHESIS GENE SEQUENCINGDBS, WB, SV10-12 days
PMADNAPCCB - PROPIONIC ACIDEMIA MUTATION PANELDBS, WB, SV10-12 days
PCCSPCCA, PCCB PROPIONIC ACIDEMIA GENE SEQUENCINGDBS, WB, SV10-12 days
SLC22A5SSLC22A5 CARNITINE UPTAKE DEFECT GENE SEQUENCINGDBS, WB, SV10-12 days
SLC25A13SSLC25A13 CITRULLINEMIA TYPE II GENE SEQUENCINGDBS, WB, SV10-12 days
SLC25A20SSLC25A20 CARNITINE ACYLCARNITINE TRANSLOCASE DEFICIENCY GENE SEQUENCINGDBS, WB, SV10-12 days
SMPD1SSMPD1 NIEMANN-PICK DISEASE TYPE A/B GENE SEQUENCINGDBS, WB, SV10-12 days
SMASPINAL MUSCULAR ATROPHY SMN1 DIAGNOSTIC TESTING (MLPA)DBS, WB, SV10-12 days
SMACASPINAL MUSCULAR ATROPHY SMN1 CARRIER TESTING (MLPA)DBS, WB, SV10-12 days
SMACNSPINAL MUSCULAR ATROPHY SMN2 COPY NUMBER (MLPA)DBS, WB, SV10-12 days
SUMF1SSUMF1 MULTIPLE SULFATASE DEFICIENCY GENE SEQUENCINGDBS, WB, SV10-12 days
TATSTAT TYROSINEMIA TYPE II GENE SEQUENCINGDBS, WB, SV10-12 days

Biochemical Genetics

See below for a list of all of the biochemical genetic testing that is offered.

Metabolic Analytes and Profiles
Test CodeDescriptionSpecimenTurn Around Time
ACACYLCARNITINE PROFILEDBS, WB3 days
AAAMINO ACID PROFILEDBS, WB3 days
GALGALACTOSEMIA - GALACTOSE-1-PHOSPHATE URIDYLTRANSFERASE ENZYME ANALYSIS AND TOTAL GALACTOSEDBS, WB3 days
LSDALLLSD ENZYME PANEL: FABRY DISEASE, GAUCHER DISEASE, KRABBE DISEASE, MPS I (HURLER SYNDROME), MPS II (HUNTER SYNDROME), MPS IVA (MORQUIO A SYNDROME), MPS VI (MAROTEAUX- LAMY SYNDROME), NIEMANN-PICK DISEASE TYPE A/B, POMPE DISEASEDBS, WB3 days
HGBSICKLE CELL & OTHER HEMOGLOBINOPATHIES: ISOELECTRIC FOCUSING GEL ELECTROPHORESIS OF HEMOGLOBINSDBS, WB3 days
StepOneSTEPONE® NEWBORN SCREENING PANEL - INCLUDES: 17OHP, AA, AC, BIO, IRT, GAL, HGB, TSH, GLA, ABG, GALC, IDUA, ASM, GAA, XALD, SCID, G6DNADBS, WB3 days


Metabolic Individual Disorders
Test CodeDescriptionSpecimenTurn Around Time
ACACYLCARNITINE PROFILEDBS, WB3 days
AAAMINO ACID PROFILEDBS, WB3 days
BIOBIOTINIDASE DEFICIENCY (COMPLETE/PARTIAL) - BIOTINIDASE ENZYME ANALYSISDBS, WB3 days
17OHPCONGENITAL ADRENAL HYPERPLASIA - 17Α HYDROXYPROGESTERONE (17 OHP)DBS, WB3 days
TSHCONGENITAL HYPOTHYROIDISM - THYROID-STIMULATING HORMONE (TSH)DBS, WB3 days
T4CONGENITAL HYPOTHYROIDISM - THYROXINE (T4)DBS, WB3 days
IRTCYSTIC FIBROSIS (NOT VALID AFTER 90 DAYS OF AGE) - IMMUNOREACTIVE TRYPSIN (IRT)DBS, WB3 days
DMDCKDUCHENNE MUSCULAR DYSTROPHY - CREATINE KINASE ENZYME ANALYSISDBS, WB3 days
G6PDGLUCOSE-6-PHOSPHATE DEHYDROGENASE ENZYME ANALYSISDBS, WB3 days
GLAFABRY DISEASE - ALPHA-GALACTOSIDASE A ENZYME ANALYSISDBS, WB3 days
GALGALACTOSEMIA - GALACTOSE-1-PHOSPHATE URIDYLTRANSFERASE ENZYME ANALYSIS AND TOTAL GALACTOSEDBS, WB3 days
GALMONGALACTOSEMIA MONITORING - GALACTOSE-1-PHOSPHATE URIDYLTRANSFERASE ENZYME ANALYSIS AND TOTAL GALACTOSEDBS, WB3 days
ABGGAUCHER DISEASE - GLUCOCEREBROSIDASE (GLUCOSYLCERAMIDASE) ENZYME ANALYSISDBS, WB3 days
GALCKRABBE DISEASE - GALACTOCEREBROSIDASE ENZYME ANALYSISDBS, WB3 days
IDUAMPS I (HURLER SYNDROME) -  ALPHA-L-IDURONIDASE ENZYME ANALYSISDBS, WB3 days
IDSMPS II (HUNTER SYNDROME) - IDURONATE 2-SULFATASE ENZYME ANALYSISDBS, WB3 days
GALNSMPS IVA (MORQUIO A SYNDROME) - GALACTOSAMINE-6-SULFATASE  ENZYME ANALYSISDBS, WB3 days
ARSBMPS VI (MAROTEAUX-LAMY SYNDROME) - ARYLSULFATASE B ENZYME ANALYSISDBS, WB3 days
ASMNIEMANN-PICK DISEASE TYPE A/B - ACID SPHINGOMYELINASE ENZYME ANALYSISDBS, WB3 days
PKMONPKU MONITORING - PHENYLALANINEDBS, WB3 days
GAAPOMPE DISEASE - ACID ALPHA-GLUCOSIDASE ENZYME ANALYSISDBS, WB3 days
HGBSICKLE CELL & OTHER HEMOGLOBINOPATHIES - ISOELECTRIC FOCUSING GEL ELECTROPHORESIS OF HEMOGLOBINSDBS, WB3 days
SUACMOSUCCINYLACETONE (SUAC) - SUCCINYLACETONEDBS, WB3 days
TYRMONTYROSINEMIA MONITORING - SUCCINYLACETONE AND TYROSINEDBS, WB3 days
XALDX-LINKED ADRENOLEUKODYSTROPHY - C26:0 LYSOPHOSPHATIDYLCHOLINEDBS, WB3 days
POSTMPOST MORTEM INCLUDES: 17OHP, AC, GAL, TSHDBS, Vitreous Fluid, Bile, Liver Tissue Blot3 days

Instructions and Order

Ordering instructions:

  • Please download test requisition form or order a PerkinElmer Genetics sample collection pack
  • Preferred samples for biochemical samples is DBS or whole blood
  • Preferred samples for molecular samples is DBS, whole blood, or saliva
  • Fill in test requisition for and informed consent form
  • NOTE: if you do not use a PerkinElmer Genetics sample collection pack, please be sure that only accepted samples are sent. You can find all preferred and accepted samples in the specimen collection requirements guide found here.

Special Instructions:

  • Please submit medical records or clinical summary notes, and a signed consent form when ordering genome testing. Testing will not be initiated until these documents are received.
For pricing inquires please contact us. Click here to send email