We perform medical diagnostic tests and efficiently provide accurate results that help your physician screen for, diagnose, and manage the treatment of health problems.


Metabolic Storage Disorders Panel Sequencing, 51 Genes

CPT Code(s): 81250  (G6PC); 81251  (GBA); 81290  (MCOLN1); 81330  (SMPD1); 81404  (NPC2); 81405 x3  (ARSA, GLA, IDS); 81406 x6  (GAA, GALC, IDUA, NPC1, PYGM, SLC37A4); 81407  (AGL); 81479
Specimen Required: Patient Preparation:
Collect:Lavender (EDTA) or yellow (ACD Solution A or B).
Specimen Preparation:Transport 3 mL whole blood. (Min: 1 mL)
Storage/Transport Temperature:Refrigerated.
Stability:Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
New York DOH Approval Status: Specimens from New York clients will be sent out to a New York DOH approved laboratory, if possible.
  • AGA, AGL, ARSA, ARSB, CLN3, CLN5, CLN6, CLN8, CTNS, CTSA, DNAJC5, ENO3, G6PC, GAA, GALC, GALNS, GBAFabry diseaseGaucher diseaseGBE1, GLA, GLB1, GM2A, GNPTAB, GNS, GUSB, GYS1, GYS2, HGSNAT, HYAL1, IDS, IDUA, LDHA, LIPA, MAN2B1Glycogen storage diseaseHunter syndromeHurler syndromeKrabbe diseaseLipidosisLysosomal storage diseaseMANBA, MCOLN1, MFSD8, NAGA, NAGLU, NEU1, NPC1, NPC2, PFKM, PPT1, PYGL, PYGM, SGSH, SLC17A5, SLC37A4McArdle diseaseMetachromatic leukodystrophyMucopolysaccharidosis (MPS)Neuronal ceroid lipofuscinosisNiemann-Pick diseaseOligosaccharidosisPompe diseaseSanfilippo ASMPD1, SUMF1, TPP1