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Hypoglycemia Panel - Expanded

Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy Genes Gene CPT Codes Copy CPT Codes
ABCC8 81407,81479
ACAD9 81479,81479
ACADM 81479,81479
ACADS 81405,81479
ACADSB 81479,81479
ACADVL 81406,81479
ACAT1 81479,81479
ACSF3 81479,81479
ADK 81479,81479
AGL 81407,81479
AKT2 81479,81479
ALDH7A1 81406,81479
ALDOB 81479,81479
ALG12 81479,81479
APPL1 81479,81479
ASXL2 81479,81479
ATP5F1D 81479,81479
ATP7A 81479,81479
AUH 81479,81479
BCKDHA 81405,81479
BCKDHB 81406,81479
BLK 81479,81479
CA5A 81479,81479
CACNA1C 81479,81479
CPT1A 81479,81479
CPT2 81404,81479
CYP7B1 81479,81479
DBH 81479,81479
DBT 81406,81405
DGUOK 81405,81479
ETFA 81479,81479
ETFB 81479,81479
ETFDH 81479,81479
FAH 81406,81479
FBP1 81479,81479
G6PC1 81479,81479
GALT 81406,81479
GATB 81479,81479
GCDH 81406,81479
GCK 81406,81479
GK 81479,81479
GLUD1 81406,81479
GYS2 81479,81479
HADH 81479,81479
HADHA 81406,81479
HADHB 81406,81479
HMGCL 81479,81479
HMGCS2 81479,81479
HNF1A 81405,81479
HNF1B 81405,81404
HNF4A 81406,81479
HSD17B10 81479,81479
INS 81404,81479
INSR 81479,81479
IVD 81406,81479
KCNJ11 81403,81479
KDM6A 81479,81479
KLF11 81479,81479
KMT2D 81479,81479
LHX4 81479,81479
LRPPRC 81479,81479
MAFA 81479,81479
MCCC1 81406,81479
MCCC2 81406,81479
MICOS13 81479,81479
MLYCD 81479,81479
MMUT 81406,81479
MPC1 81479,81479
MPI 81405,81479
MPV17 81405,81404
MRAP 81479,81479
MRPS23 81479,81479
MRPS28 81479,81479
MRPS7 81479,81479
MTO1 81479,81479
MTOR 81479,81479
NEUROD1 81479,81479
NNT 81479,81479
NR1H4 81479,81479
NSD1 81406,81405
OGDH 81479,81479
OXCT1 81479,81479
PAX4 81479,81479
PC 81406,81479
PCCA 81406,81405
PCCB 81406,81479
PCK1 81479,81479
PCK2 81479,81479
PDX1 81404,81479
PGM1 81479,81479
PHKA2 81479,81479
PHKB 81479,81479
PHKG2 81479,81479
PMM2 81479,81479
PNPO 81479,81479
PPP1R15B 81479,81479
PRKAG2 81406,81479
PTF1A 81479,81479
PYGL 81479,81479
RNF125 81479,81479
SERAC1 81479,81479
SLC16A1 81479,81479
SLC22A5 81405,81479
SLC25A13 81479,81479
SLC25A20 81405,81404
SLC2A2 81479,81479
SLC37A4 81406,81479
TAFAZZIN 81406,81479
TALDO1 81479,81479
TANGO2 81479,81479
TFAM 81479,81479
UCP2 81479,81479
UQCC3 81479,81479
UQCRB 81479,81479
UQCRC2 81479,81479
Test Code Test Copy Genes Panel CPT Code Gene CPT Codes Copy CPT Code Base Price
12057Genes x (115)81479 81403(x1), 81404(x6), 81405(x12), 81406(x23), 81407(x2), 81479(x186) $1290 Order Options and Pricing

Pricing Comments

We are happy to accommodate requests for testing single genes in this panel or a subset of these genes. The price will remain the list price. If desired, free reflex testing to remaining genes on panel is available. Alternatively, a single gene or subset of genes can also be ordered via our Custom Panel tool.

An additional 25% charge will be applied to STAT orders. STAT orders are prioritized throughout the testing process.

Click here for costs to reflex to whole PGxome (if original test is on PGxome Sequencing platform).

Click here for costs to reflex to whole PGnome (if original test is on PGnome Sequencing platform).

Turnaround Time

3 weeks on average for standard orders or 2 weeks on average for STAT orders.

Please note: Once the testing process begins, an Estimated Report Date (ERD) range will be displayed in the portal. This is the most accurate prediction of when your report will be complete and may differ from the average TAT published on our website. About 85% of our tests will be reported within or before the ERD range. We will notify you of significant delays or holds which will impact the ERD. Learn more about turnaround times here.

Targeted Testing

For ordering sequencing of targeted known variants, go to our Targeted Variants page.


Genetic Counselors


  • Maxime Cadieux-Dion, PhD

Clinical Features and Genetics

Clinical Features

Recurrent episodes of abnormally low blood glucose levels, termed hypoglycemia, can occur in infants, children and adults (Marles and Casiro. 1998. PubMed ID: 20401190; Cryer et al. 2009. PubMed ID: 19088155; Douillard et al. 2012. PubMed ID: 22587661; Saudubray and Charpentier. 2014; Thornton et al. 2015. PubMed ID: 25957977; Ghosh et al. 2016. PubMed ID: 26718813). Hypoglycemia may occur at different times, such as after eating (postprandial), during fasting, or after exercise, depending on the cause. Early in a hypoglycemic episode, an individual may display symptoms such as pallor, anxiety, sweating, weakness, tremors, nausea and vomiting, and if untreated, these symptoms may progress to irritability, confusion, slurred speech, headache, seizures and coma. As glucose is the primary fuel for the brain, these episodes can cause permanent brain injury if not treated urgently. Brain injury from untreated hypoglycemic episodes can lead to clinical symptoms such as neurocognitive defects, memory deficits, aphasia and hemiparesis (Ghosh et al. 2016. PubMed ID: 26718813).

Hypoglycemic episodes are often brought on by illness or other metabolic stress, and can be caused by many different factors. The two most common are diabetes mellitus and idiopathic ketotic hypoglycemia (IKH). IKH is a diagnosis of exclusion. Before concluding an individual has IKH, other less common causes of hypoglycemia should be ruled out. Other potential causes include endocrine disorders, inborn errors of metabolism (IEMs), and liver disease. The IEMs known to be associated with hypoglycemia include several of the glycogen storage diseases (GSDs), disorders of carbohydrate metabolism, branched chain organic acidemias, and disorders of fatty acid oxidation (FAOs). We offer smaller panels focused solely on the IEMs more commonly associated with hypoglycemia, as well as a smaller panel focused specifically on congenital hyperinsulinism. This particular Expanded Hypoglycemia panel includes all of the genes on the Metabolic Hypoglycemia and Congenital Hyperinsulinism panels as well as some other disorders less commonly associated with hypoglycemia (Marles and Casiro. 1998. PubMed ID: 20401190; Cryer et al. 2009. PubMed ID: 19088155; Douillard et al. 2012. PubMed ID: 22587661; Saudubray and Charpentier. 2014; Thornton et al. 2015. PubMed ID: 25957977; Ghosh et al. 2016. PubMed ID: 26718813; Gillis and Gillis. 2019. PubMed ID: 20301549). Some of the genes in this panel are known to be associated with disorders that result in ketotic hypoglycemia, others with non-ketotic hypoglycemia.

Molecular testing is useful to confirm a clinical diagnosis of a genetic cause of the observed hypoglycemic episodes, or rule out such causes in cases of idiopathic ketotic hypoglycemia (IKH). Molecular diagnosis for a patient with recurrent hypoglycemic episodes may help with determining appropriate treatment measures, assessment of recurrence risks, and allow for appropriate screening for potential future symptoms. 


The majority of the disorders associated with genes in this panel exhibit autosomal recessive inheritance, with the following exceptions:

Autosomal dominant inheritanceAKT2, APPL1, ASXL2, BLK, CACNA1C, GLUD1, HNF1A, HNF1B, HNF4A, KLF11, KMT2D, LHX4, MAFA, MTOR, NSD1  PAX4, RNF125, and UCP2.

Autosomal dominant and/or recessive inheritance: ABCC8, CPT2, GCK, INS, INSR, KCNJ11, PDX1 and SLC16A1

X-linked inheritance: GK, HSD17B10, PHKA2, KDM6A and TAFAZZIN

The genes included in this test are associated with disorders that can be broadly classified into several categories based on the pathway(s) within the cell that are disrupted:

Disorders of Amino Acid or Ketone MetabolismACAT1, ADK, ALDH7A1, AUH, BCKDHA, BCKDHB, DBT, FAH, GCDH, GLUD1, HMGCL, HMGCS2,  HSD17B10,  IVD,  MCCC1,  MCCC2,  MMUT,  OXCT1, PCCA, PCCB

Congenital Disorders of GlycosylationALG12, MPI

Developmental or Cellular RegulationASXL2, CACNA1C, LHX4, MTOR, PPP1R15B, PTF1A, RNF125

Disorders of Carbohydrate Metabolism, Transport, and AbsorptionAGL, ALDOB, FBP1, G6PC1/G6PC, GALT, GCK, GK, GYS2, PC, PCK1, PCK2, PGM1, PHKA2, PHKB, PHKG2, PRKAG2, PYGL, SLC2A2, SLC37A4

Disorders of Fatty Acid Oxidation and TransportACAD9, ACADM, ACADS, ACADSB, ACADVL, ACSF3, CPT1A, CPT2, ETFA, ETFB, ETFDH, HADH, HADHA, HADHB, MLYCD, SLC22A5, SLC25A20, TANGO2

Disorders of Insulin Secretion and SignalingABCC8, AKT2, APPL1, BLK, HNF1A, HNF1B, HNF4A, INS, INSR, KCNJ11, KLF11, MAFA, NEUROD1, PAX4, PDX1, UCP2

Disorders of Nuclear Encoded Mitochondrial GenesATP5F1D, CA5A, DGUOK, GATB, LRPPRC, MICOS13, MPV17, MRPS23, MRPS28, MRPS7, MTO1, SERAC1, TAFAZZIN, TFAM, UQCC3, UQCRB, UQCRC2

Other Metabolic ProcessesCYP7B1, DBH, MPC1, MRAP, NNT, NR1H4, OGDH, PNPO, SLC16A1, SLC25A13, TALDO1

For the majority of genes on this panel, large copy number variants (gross deletions or duplications/insertions) are a rare cause of disease. Exceptions to this may include ALDH7A1, ALDOB, FBP1, GALT, HNF1B, INSR, PCCA, PHKA2, and TANGO2. It should also be noted that, to our knowledge, de novo variants are not commonly reported for the majority of genes in this panel, although they have been reported in ABCC8, AKT2, ASXL2, CACNA1C, GCK, GLUD1, HNF1A, HNF1B, HNF4A, INS, INSR, KCNJ11, LHX4, MTOR, RNF125, and TAFAZZIN.

See individual gene summaries for more information about molecular biology of gene products and spectra of pathogenic variants.

Clinical Sensitivity - Sequencing with CNV PGxome

The clinical sensitivity of this specific grouping of genes is difficult to estimate as we are unaware of any reports in the literature in which these genes have been sequenced together in a patient cohort with hypoglycemia as the primary indication for testing. The clinical sensitivity of sequencing the individual genes is high in patient groups with biochemical and/or enzymatic diagnoses of the relevant disorders; details are available on the individual test description pages. Analytical sensitivity is expected to be high as most variants reported in these genes are detectable via direct sequencing.

With regards to patients with congenital hyperinsulinism (CHI), some data are available. In a cohort of 417 CHI patients studied at the Hyperinsulinism Center in The Children’s Hospital of Philadelphia (CHOP) (Snider et al. 2013. PubMed ID: 23275527), nine genes were tested. Pathogenic variants were identified in 91% (272 of 298) of diazoxide-unresponsive probands (ABCC8KCNJ11, and GCK), and in 47% (56 of 118) of diazoxide-responsive probands (ABCC8KCNJ11GLUD1HADHUCP2HNF4A, and HNF1A). In another cohort of 300 CHI patients studied in United Kingdom (Kapoor et al. 2013. PubMed ID: 23345197), pathogenic variants were identified in 45.3% of patients (136/300) in eight tested genes (ABCC8, KCNJ11, GLUD1, GCK, HADH, SLC16A1, HNF4A, HNF1A). KATP (ABCC8 and KCNJ11) pathogenic variants were the most common genetic cause identified (109/300, 36.3%). Pathogenic variants in ABCC8/KCNJ11 were identified in 92 (87.6%) diazoxide-unresponsive patients (n=105). Among the diazoxide-responsive patients (n=183), pathogenic variants were identified in 41 patients (22.4%), including pathogenic variants in ABCC8/KCNJ11 (15), HNF4A (7), GLUD1 (16) and HADH (3).

Testing Strategy

This test is performed using Next-Gen sequencing with additional Sanger sequencing as necessary.

This panel typically provides 99.8% coverage of all coding exons of the genes plus 10 bases of flanking noncoding DNA in all available transcripts along with other non-coding regions in which pathogenic variants have been identified at PreventionGenetics or reported elsewhere. We define coverage as ≥20X NGS reads or Sanger sequencing. PGnome panels typically provide slightly increased coverage over the PGxome equivalent. PGnome sequencing panels have the added benefit of additional analysis and reporting of deep intronic regions (where applicable).

Dependent on the sequencing backbone selected for this testing, discounted reflex testing to any other similar backbone-based test is available (i.e., PGxome panel to whole PGxome; PGnome panel to whole PGnome).

Indications for Test

Patients exhibiting ketotic or non-ketotic hypoglycemia without a known cause are good candidates for this panel, as are patients with congenital hyperinsulinism.


Official Gene Symbol OMIM ID
ABCC8 600509
ACAD9 611103
ACADM 607008
ACADS 606885
ACADSB 600301
ACADVL 609575
ACAT1 607809
ACSF3 614245
ADK 102750
AGL 610860
AKT2 164731
ALDH7A1 107323
ALDOB 612724
ALG12 607144
APPL1 604299
ASXL2 612991
ATP5F1D 603150
ATP7A 300011
AUH 600529
BCKDHA 608348
BCKDHB 248611
BLK 191305
CA5A 114761
CACNA1C 114205
CPT1A 600528
CPT2 600650
CYP7B1 603711
DBH 609312
DBT 248610
DGUOK 601465
ETFA 608053
ETFB 130410
ETFDH 231675
FAH 613871
FBP1 611570
G6PC1 613742
GALT 606999
GATB 603645
GCDH 608801
GCK 138079
GK 300474
GLUD1 138130
GYS2 138571
HADH 601609
HADHA 600890
HADHB 143450
HMGCL 613898
HMGCS2 600234
HNF1A 142410
HNF1B 189907
HNF4A 600281
HSD17B10 300256
INS 176730
INSR 147670
IVD 607036
KCNJ11 600937
KDM6A 300128
KLF11 603301
KMT2D 602113
LHX4 602146
LRPPRC 607544
MAFA 610303
MCCC1 609010
MCCC2 609014
MICOS13 616658
MLYCD 606761
MMUT 609058
MPC1 614738
MPI 154550
MPV17 137960
MRAP 609196
MRPS23 611985
MRPS28 611990
MRPS7 611974
MTO1 614667
MTOR 601231
NEUROD1 601724
NNT 607878
NR1H4 603826
NSD1 606681
OGDH 613022
OXCT1 601424
PAX4 167413
PC 608786
PCCA 232000
PCCB 232050
PCK1 614168
PCK2 614095
PDX1 600733
PGM1 171900
PHKA2 300798
PHKB 172490
PHKG2 172471
PMM2 601785
PNPO 603287
PPP1R15B 613257
PRKAG2 602743
PTF1A 607194
PYGL 613741
RNF125 610432
SERAC1 614725
SLC16A1 600682
SLC22A5 603377
SLC25A13 603859
SLC25A20 613698
SLC2A2 138160
SLC37A4 602671
TALDO1 602063
TANGO2 616830
TFAM 600438
UCP2 601693
UQCC3 616097
UQCRB 191330
UQCRC2 191329
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT


Name Inheritance OMIM ID
2-Methyl-3-Hydroxybutyric Aciduria XL 300438
2-Methylbutyryl-CoA Dehydrogenase Deficiency AR 610006
3 Methylcrotonyl-CoA Carboxylase 1 Deficiency AR 210200
3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency AR 246450
3-Methylcrotonyl CoA Carboxylase 2 Deficiency AR 210210
3-Methylglutaconic Aciduria AR 250950
3-Methylglutaconic Aciduria Type 2 XL 302060
3-Methylglutaconic Aciduria with Deafness, Encephalopathy, and Leigh-like Syndrome AR 614739
Alpha-Ketoglutarate Dehydrogenase Deficiency AR 203740
Alpha-Methylacetoacetic Aciduria AR 203750
Bile Acid Synthesis Defect, Congenital, 3 AR 613812
Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome AD 620186
Carnitine Palmitoyltransferase I Deficiency AR 255120
Carnitine Palmitoyltransferase II Deficiency, Infantile AR 600649
Carnitine Palmitoyltransferase II Deficiency, Late-Onset AR 255110
Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal AR 608836
Carnitine-Acylcarnitine Translocase Deficiency AR 212138
Charcot-Marie-Tooth disease, axonal, type 2EE AR 618400
Cholestasis, progressive familial intrahepatic, 5 AR 617049
Citrin Deficiency AR 605814
Citrullinemia Type II AR 603471
Combined Malonic And Methylmalonic Aciduria AR 614265
Combined Oxidative Phosphorylation Deficiency 10 AR 614702
Combined Oxidative Phosphorylation Deficiency 34 AR 617872
Combined oxidative phosphorylation deficiency 37 AR 618329
Combined oxidative phosphorylation deficiency 41 AR 618838
Combined oxidative phosphorylation deficiency 47 AR 618958
Combined oxidative phosphorylation defiency 46 AR 618952
Congenital Disorder Of Glycosylation Type 1A AR 212065
Congenital Disorder Of Glycosylation Type 1B AR 602579
Congenital Disorder Of Glycosylation Type 1G AR 607143
Congenital Disorder of Glycosylation Type It AR 614921
Deficiency Of 3-Hydroxyacyl-CoA Dehydrogenase AR 231530
Deficiency Of Butyryl-CoA Dehydrogenase AR 201470
Deficiency Of Transaldolase AR 606003
Diabetes mellitus, permanent neonatal AR 618858
Diabetes mellitus, permanent neonatal 3, with or without neurologic features AR 618857
Diabetes Mellitus, Permanent Neonatal, With Cerebellar Agenesis AR 609069
Dopamine Beta Hydroxylase Deficiency AR 223360
Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young AD 616026
Fanconi-Bickel Syndrome AR 227810
Fructose-Biphosphatase Deficiency AR 229700
Galactosemia AR 230400
Glucocorticoid Deficiency 2 AR 607398
Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency AR 614736
Glutaric Aciduria, Type 1 AR 231670
Glutaric Aciduria, Type 2 AR 231680
Glycerol Kinase Deficiency XL 307030
Glycogen Storage Disease 0, Liver AR 240600
Glycogen Storage Disease Of Heart, Lethal Congenital AD 261740
Glycogen Storage Disease Type Ia AR 232200
Glycogen Storage Disease Type Ib AR 232220
Glycogen Storage Disease Type Ic AR 232240
Glycogen Storage Disease Type III AR 232400
Glycogen Storage Disease Type IXa1 XL 306000
Glycogen Storage Disease Type IXc AR 613027
Glycogen Storage Disease Type VI AR 232700
Glycogen Storage DiseaseType IXb AR 261750
Hereditary Fructose Intolerance AR 229600
Hyperammonemia due to carbonic anhydrase VA deficiency AR 615751
Hyperinsulinemic Hypoglycemia Familial 5 AD 609968
Hyperinsulinemic Hypoglycemia, Familial 3 AD 602485
Hyperinsulinemic Hypoglycemia, Familial 6 AD 606762
Hyperinsulinemic Hypoglycemia, Familial, 1 AR 256450
Hyperinsulinemic Hypoglycemia, Familial, 2 AR 601820
Hyperinsulinemic Hypoglycemia, Familial, 4 AR 609975
Hyperinsulinemic Hypoglycemia, Familial, 7 AD 610021
Hypermethioninemia Due To Adenosine Kinase Deficiency AR 614300
Hypoglycemia, Neonatal, Simulating Foetopathia Diabetica AD 240900
Insulinomatosis and diabetes mellitus AD 147630
Isovaleryl-CoA Dehydrogenase Deficiency AR 243500
Kabuki Syndrome 1 AD 147920
Kabuki Syndrome 2 XL 300867
Leigh Syndrome, French Canadian Type AR 220111
Leprechaunism Syndrome AR 246200
Leucine-Induced Hypoglycemia AD 240800
Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency AR 609016
Malonyl-CoA Decarboxylase Deficiency AR 248360
Maple Syrup Urine Disease AR 248600
Maturity-Onset Diabetes Of The Young, Type 1 AD 125850
Maturity-Onset Diabetes Of The Young, Type 10 AD 613370
Maturity-Onset Diabetes Of The Young, Type 11 AD 613375
Maturity-onset diabetes of the young, type 13 AD 616329
Maturity-Onset Diabetes Of The Young, Type 14 AD 616511
Maturity-Onset Diabetes Of The Young, Type 2 AD 125851
Maturity-Onset Diabetes Of The Young, Type 3 AD 600496
Maturity-Onset Diabetes Of The Young, Type 4 AD 606392
Maturity-Onset Diabetes Of The Young, Type 5 AD 137920
Maturity-Onset Diabetes Of The Young, Type 6 AR 606394
Maturity-Onset Diabetes Of The Young, Type 7 610508
Maturity-Onset Diabetes Of The Young, Type 9 AD 612225
Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency AR 201450
Menkes Kinky-Hair Syndrome XL 309400
Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration AR 616878
Methylmalonic Aciduria Due To Methylmalonyl-CoA Mutase Deficiency AR 251000
Microcephaly, short stature, and impaired glucose metabolism 2 AR 616817
Mitochondrial 3-Hydroxy-3-Methylglutaryl-CoA Synthase Deficiency AR 605911
Mitochondrial Complex I Deficiency due to ACAD9 Deficiency AR 611126
Mitochondrial Complex III Deficiency, Nuclear Type 3 AR 615158
Mitochondrial Complex III Deficiency, Nuclear Type 5 AR 615160
Mitochondrial Complex III Deficiency, Nuclear Type 9 AR 616111
Mitochondrial complex V (ATP synthase) deficiency AR 618120
Mitochondrial DNA depletion syndrome 15 (hepatocerebral type) AR 617156
Mitochondrial DNA-Depletion Syndrome 3, Hepatocerebral AR 251880
Mitochondrial Pyruvate Carrier Deficiency AR 614741
Monocarboxylate Transporter 1 Deficiency AR 616095
Navajo Neurohepatopathy AR 256810
Occipital Horn Syndrome XL 304150
Pancreatic agenesis 2 AR 615935
Pancreatic Agenesis, Congenital AR 260370
Permanent Neonatal Diabetes Mellitus AR 606176
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic AR 261680
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial AR 261650
Pineal Hyperplasia And Diabetes Mellitus Syndrome AR 262190
Pituitary Hormone Deficiency, Combined 4 AD 262700
Portal hypertension, noncirrhotic AR 617068
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 AR 617070
Propionic Acidemia AR 606054
Pyridoxal 5'-Phosphate-Dependent Epilepsy AR 610090
Pyridoxine-Dependent Epilepsy AR 266100
Pyruvate Carboxylase Deficiency AR 266150
Shashi-Pena syndrome AD 617190
Smith-Kingsmore Syndrome AD 616638
Sotos' Syndrome AD 117550
Spastic Paraplegia 5A AR 270800
Spinal Muscular Atrophy, Distal, X-Linked 3 XL 300489
Succinyl-CoA Acetoacetate Transferase Deficiency AR 245050
Systemic Carnitine Deficiency AR 212140
Tenorio Syndrome AD 616260
Timothy Syndrome AD 601005
Trifunctional Protein Deficiency AR 609015
Tyrosinemia Type I AR 276700
Very Long Chain Acyl-CoA Dehydrogenase Deficiency AR 201475

Related Test



  • Cryer et al. 2009. PubMed ID: 19088155
  • Douillard et al. 2012. PubMed ID: 22587661
  • Ghosh et al. 2016. PubMed ID: 26718813
  • Gillis and Gillis. 2019. PubMed ID: 20301549
  • Kapoor et al. 2013. PubMed ID: 23345197
  • Marles and Casiro. 1998. PubMed ID: 20401190
  • Saudubray and Charpentier. 2014. Clinical Phenotypes: Diagnosis/Algorithms. In: Valle et al. editors. New York, N: McGraw-Hill. OMMBID.
  • Snider et al. 2013. PubMed ID: 23275527
  • Thornton et al. 2015. PubMed ID: 25957977


Ordering Options

We offer several options when ordering sequencing tests. For more information on these options, see our Ordering Instructions page. To view available options, click on the Order Options button within the test description.

myPrevent - Online Ordering

  • The test can be added to your online orders in the Summary and Pricing section.
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Requisition Form

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For Requisition Forms, visit our Forms page

If ordering a Duo or Trio test, the proband and all comparator samples are required to initiate testing. If we do not receive all required samples for the test ordered within 21 days, we will convert the order to the most effective testing strategy with the samples available. Prior authorization and/or billing in place may be impacted by a change in test code.

Specimen Types

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PGxome (Exome) Sequencing Panel

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