Molecular Testing for Inherited Disorders

ARUP offers a test menu that accommodates more than 99 percent of pediatric testing requests for the diagnosis and management of conditions that affect the healthy growth and development of the pediatric patient. With a large percentage of testing performed at ARUP, children’s hospitals can be more operationally efficient with their referral testing.

Search our Full Laboratory Test Directory

Search our entire Laboratory Test Directory for all available pediatrics testing:


Test # Test Name Additional Information
2007533 Progressive Myoclonic Epilepsy (PME) Panel, Sequence Analysis and Exon-Level Deletion/Duplication Additional Technical Information
0051266 Achondroplasia (FGFR3) 2 Mutations
0051382 ACVRL1 and ENG Sequencing and Deletion/Duplication
2007547 Adolescent-Onset Epilepsy Panel, 21 Genes Additional Technical Information
0051256 Alpha-1-Antitrypsin & A1A Genotype with Reflex to Phenotype
2002398 Alport Syndrome, X-linked (COL4A5) Sequencing and Deletion/Duplication
0040208 Aneuploidy Panel by FISH (13, 18, 21, X, & Y—newborn whole blood)
0050029 Apolipoprotein B
0051415 Ashkenazi Jewish Diseases, 16 Genes
2008443 ATP7A-Related Copper Transporter Disorders (ATP7A) Deletion/Duplication
0051288 Beta-2-Adrenergic Receptor Gene Haplotyping (Arg16Gly, Gln27Glu)
0051433 Bloom Syndrome (BLM),1 Variant
0051453 Canavan Disease (ASPA), 4 Variants
0051374 Connexin 26 (GJB2) Sequencing
0051110 Cystic Fibrosis (CFTR) Sequencing
2013661 Cystic Fibrosis (CFTR), 165 Pathogenic Variants
2013662 Cystic Fibrosis (CFTR), 165 Pathogenic Variants, Fetal
2013663 Cystic Fibrosis (CFTR), 165 Variants with Reflex to Sequencing
2013664 Cystic Fibrosis (CFTR), 165 Variants with Reflex to Sequencing and Reflex to Deletion/Duplication
0097720 Factor V Leiden (F5) R506Q Mutation
2003220 Factor XIII (F13A1) V34L Variant (assess thrombotic risk in Caucasians)
2004915 Familial Adenomatous Polyposis Panel: APC Sequencing, APC Deletion/Duplication, and MYH 2 Mutations
2002658 Familial Mediterranean Fever (MEFV) Sequencing
2001961 Familial Mutation, Targeted Sequencing

The following genes are available:
ACADVL, ACADM, ACVRL1, APC, ASS1, ATP7A, BMPR1A, BMPR2, BTD, CCM1, CCM2, CCM3, CDKL5, CFTR, COL4A5, CYP1B1, ENG, F8, F9, FBN1, G6PD, GALT, GJB2; HBA1, HBA2, HBB, INSR, LMNA, MECP2,MEFV, MEN1, MLH1, MSH2; MSH6, MUTYH, MYH3, NF1, OTC, PLOD1, PMS2; PRSS1, PTEN, PTPN11, RASA1, RET, SDHB, SDHC, SDHD, SLC22A5, SLC25A13, SMAD4, SPRED1, SPINK1, SOS1, STK11, TACI, TGFBR1, TGFBR2, UBE3A, VHL, VWF

0051468 Fanconi Anemia Group C, (FANCC), 2 Variants
2002662 Freeman-Sheldon Syndrome (MYH3) Sequencing Exon 17
0051438 Gaucher Disease (GBA), 8 Variants
0051476 Glaucoma (Primary Congenital), CYP1B1 Sequencing
2001992 Hearing Loss, Nonsyndromic Panel (GJB2) Sequencing, (GJB6) 2 Deletions and Mitochondrial DNA 2 Mutations
2001956 Hearing Loss, Nonsyndromic, Connexin 30 (GJB6) 2 Deletions Additional Technical Information
0055656 Hereditary Hemochromatosis Mutation Detection (C282Y, H63D, & S65C)
2009008 Hereditary Hemorrhagic Telangiectasia (ACVRL1 and ENG) Sequencing and Deletion/Duplication with Reflex to Juvenile Polyposis (SMAD4) Sequencing and Deletion/Duplication
0051650 HNPCC/Lynch Syndrome (MLH1) Sequencing and Deletion/Duplication
0051654 HNPCC/Lynch Syndrome (MSH2) Sequencing and Deletion/Duplication Additional Technical Information
0051656 HNPCC/Lynch Syndrome (MSH6) Sequencing and Deletion/Duplication Additional Technical Information
0051737 HNPCC/Lynch Syndrome (PMS2) Sequencing and Deletion/Duplication Additional Technical Information
0051367 Hypochondroplasia (FGFR3) 2 Mutations
2007535 Infantile-Onset Epilepsy Panel, Sequencing and Deletion/Duplication Additional Technical Information
2004992 Juvenile Polyposis (BMPR1A) Sequencing and Deletion/Duplication
2001971 Juvenile Polyposis (SMAD4) Sequencing and Deletion/Duplication
2009306 Kabuki Syndrome (KMT2D) Sequencing
0051644 Kell K/k Antigen (KEL) Genotyping
2002945 Legius Syndrome (SPRED1) Sequencing
2004539 LMNA-Related Disorders (LMNA) Deletion/Duplication
2004543 LMNA-Related Disorders (LMNA) Sequencing
2005360 Multiple Endocrine Neoplasia Type 1 (MEN1) Sequencing and Deletion/Duplication
0051390 Multiple Endocrine Neoplasia Type 2 (MEN2), RET Gene Mutations by Sequencing
2004911 MUTYH-Associated Polyposis (MUTYH) 2 Mutations
2001952 Neurofibromatosis Type 1 (NF1) Deletion/Duplication Additional Technical Information
2004195 Noonan Syndrome (SOS1) Sequencing
2004980 Plasminogen Activator Inhibitor-1, PAI-1 (SERPINE1) Genotyping
0051308 Platelet Antigen Genotyping Panel
0056060 Prothrombin Nucleotide 20210 G/A Gene Mutation (Factor II)
2003405 Pulmonary Arterial Hypertension (BMPR2) Sequencing and Deletion/Duplication
2002730 RASA1-Related Disorders (RASA1) Sequencing
2009298 Tay-Sachs Disease (HEXA) Sequencing and 7.6kb Deletion
0051428 Tay-Sachs Disease (HEXA), 7 Variants
0051506 Thanatophoric Dysplasia, Types 1 and 2 (FGFR3) 13 Mutations
2007384 Vascular Malformations Panel, Sequencing and Deletion/Duplication, 14 Genes
2007390 Vascular Malformations Sequencing, 14 Genes
2002965 Von Hippel-Lindau (VHL) Sequencing and Deletion/Duplication
2006352 X-Chromosome Inactivation Analysis Additional Technical Information
2010225 X-Linked Intellectual Disability Panel, Sequencing, 76 Genes
2001778 Y Chromosome Microdeletion