PKU Testing Genetic Health Risk reports

http://health.utah.gov/nsp/Disorders/MSMS/AA/PKU/Manual03GeneticsSymptoms_PKU_En.pdf

Genetic Health Risk reports*

5+ reports

• BRCA1/BRCA2 (Selected Variants)
  Learn more
  Genetic risk based on a limited set of variants for breast, ovarian and other cancers
  3 variants in the BRCA1 and BRCA2 genes; relevant for Ashkenazi Jewish descent
• Age-Related Macular Degeneration
  Genetic risk for a form of
  adult-onset vision loss
  2 variants in the ARMS2 and CFH genes; relevant for European descent
• Alpha-1 Antitrypsin Deficiency
  Genetic risk for lung and liver disease
  2 variants in the SERPINA1 gene; relevant for European descent
• Celiac Disease
  Genetic risk for gluten-related
  autoimmune disorder
  2 variants near the HLA-DQB1 and HLA-DQA1 genes; relevant for European descent
• G6PD Deficiency
  Genetic risk for a form of anemia
  1 variant in the G6PD gene; relevant for African descent
• Hereditary Hemochromatosis (HFE‑Related)
  Genetic risk for iron overload
  2 variants in the HFE gene; relevant for European descent
• Hereditary Thrombophilia
  Genetic risk for harmful blood clots
  2 variants in the F2 and F5 genes; relevant for European descent
• Late-Onset Alzheimer's Disease
  Genetic risk for a form of dementia
  1 variant in the APOE gene; variant found and studied in many ethnicities
• Parkinson's Disease
  Genetic risk for a form
  of movement impairment
  2 variants in the LRRK2 and GBA genes; relevant for European, Ashkenazi Jewish, North African Berber descent

See sample report

Wellness reports

5+ reports

• Alcohol Flush Reaction
• Caffeine Consumption
• Deep Sleep
• Genetic Weight
• Lactose Intolerance
• Muscle Composition
• Saturated Fat and Weight
• Sleep Movement

See sample report

Traits reports

25+ traits

• Ability to Match Musical Pitch
• Asparagus Odor Detection
• Back Hair (available for men only)
• Bald Spot (available for men only)
• Bitter Taste
• Cheek Dimples
• Cilantro Taste Aversion
• Cleft Chin
• Earlobe Type
• Early Hair Loss (available for men only)
• Earwax Type
• Eye Color
• Fear of Heights
• Finger Length Ratio
• Freckles
• Hair Photobleaching (hair lightening from the sun)
• Hair Texture
• Hair Thickness
• Light or Dark Hair
• Misophonia (hatred of the sound of chewing)
• Mosquito Bite Frequency
• Motion Sickness
• Newborn Hair
• Photic Sneeze Reflex
• Red Hair
• Skin Pigmentation
• Sweet vs. Salty
• Toe Length Ratio
• Unibrow
• Wake-Up Time
• Widow's Peak

See sample report

Carrier Status reports*

40+ reports

• ARSACS
  1 variant in the SACS gene; relevant for French Canadian descent
• Agenesis of the Corpus Callosum with Peripheral Neuropathy
  1 variant in the SLC12A6 gene; relevant for French Canadian descent
• Autosomal Recessive Polycystic Kidney Disease
  3 variants in the PKHD1 gene
• Beta Thalassemia and Related Hemoglobinopathies
  10 variants in the HBB gene; relevant for Sardinian, Cypriot, Italian/Sicilian, Greek descent
• Bloom Syndrome
  1 variant in the BLM gene; relevant for Ashkenazi Jewish descent
• Canavan Disease
  3 variants in the ASPA gene; relevant for Ashkenazi Jewish descent
• Congenital Disorder of Glycosylation Type 1a (PMM2-CDG)
  2 variants in the PMM2 gene; relevant for Danish descent
• Cystic Fibrosis
  29 variants in the CFTR gene; relevant for Ashkenazi Jewish, European, Hispanic/Latino descent
• D-Bifunctional Protein Deficiency
  2 variants in the HSD17B4 gene
• Dihydrolipoamide Dehydrogenase Deficiency
  1 variant in the DLD gene; relevant for Ashkenazi Jewish descent
• Familial Dysautonomia
  1 variant in the IKBKAP gene; relevant for Ashkenazi Jewish descent
• Familial Hyperinsulinism (ABCC8-Related)
  3 variants in the ABCC8 gene; relevant for Ashkenazi Jewish descent
• Familial Mediterranean Fever
  7 variants in the MEFV gene; relevant for Arab, Armenian, Sephardic Jewish, Turkish descent
• Fanconi Anemia Group C
  3 variants in the FANCC gene; relevant for Ashkenazi Jewish descent
• GRACILE Syndrome
  1 variant in the BCS1L gene; relevant for Finnish descent
• Gaucher Disease Type 1
  3 variants in the GBA gene; relevant for Ashkenazi Jewish descent
• Glycogen Storage Disease Type Ia
  1 variant in the G6PC gene; relevant for Ashkenazi Jewish descent
• Glycogen Storage Disease Type Ib
  2 variants in the SLC37A4 gene
• Hereditary Fructose Intolerance
  4 variants in the ALDOB gene; relevant for European descent
• Herlitz Junctional Epidermolysis Bullosa (LAMB3-Related)
  3 variants in the LAMB3 gene
• Leigh Syndrome, French Canadian Type
  1 variant in the LRPPRC gene; relevant for French Canadian descent
• Limb-Girdle Muscular Dystrophy Type 2D
  1 variant in the SGCA gene
• Limb-Girdle Muscular Dystrophy Type 2E
  1 variant in the SGCB gene; relevant for Amish descent
• Limb-Girdle Muscular Dystrophy Type 2I
  1 variant in the FKRP gene
• MCAD Deficiency
  4 variants in the ACADM gene; relevant for European descent
• Maple Syrup Urine Disease Type 1B
  2 variants in the BCKDHB gene; relevant for Ashkenazi Jewish descent
• Mucolipidosis Type IV
  1 variant in the MCOLN1 gene; relevant for Ashkenazi Jewish descent
• Neuronal Ceroid Lipofuscinosis (CLN5-Related)
  1 variant in the CLN5 gene; relevant for Finnish descent
• Neuronal Ceroid Lipofuscinosis (PPT1-Related)
  3 variants in the PPT1 gene; relevant for Finnish descent
• Niemann-Pick Disease Type A
  3 variants in the SMPD1 gene; relevant for Ashkenazi Jewish descent
• Nijmegen Breakage Syndrome
  1 variant in the NBN gene
• Nonsyndromic Hearing Loss and Deafness, DFNB1 (GJB2-Related)
  2 variants in the GJB2 gene; relevant for Ashkenazi Jewish, European descent
• Pendred Syndrome and DFNB4 Hearing Loss (SLC26A4-Related)
  6 variants in the SLC26A4 gene
• Phenylketonuria and Related Disorders
  23 variants in the PAH gene; relevant for Irish, Northern European descent
• Primary Hyperoxaluria Type 2
  1 variant in the GRHPR gene
• Rhizomelic Chondrodysplasia Punctata Type 1
  1 variant in the PEX7 gene
• Salla Disease
  1 variant in the SLC17A5 gene; relevant for Finnish, Swedish descent
• Sickle Cell Anemia
  1 variant in the HBB gene; relevant for African American, African descent
• Sjögren-Larsson Syndrome
  1 variant in the ALDH3A2 gene; relevant for Swedish descent
• Tay-Sachs Disease
  4 variants in the HEXA gene; relevant for Ashkenazi Jewish, Cajun descent
• Tyrosinemia Type I
  4 variants in the FAH gene; relevant for French Canadian, Finnish descent
• Usher Syndrome Type 1F
  1 variant in the PCDH15 gene; relevant for Ashkenazi Jewish descent
• Usher Syndrome Type 3A
  1 variant in the CLRN1 gene; relevant for Ashkenazi Jewish descent
• Zellweger Syndrome Spectrum (PEX1-Related)
  1 variant in the PEX1 gene

See sample report

https://www.23andme.com/dna-reports-list/

Topics in the Genetic Testing chapter

• What is genetic testing?
• What are the types of genetic tests?
• How is genetic testing done?
• What is informed consent?
• How can consumers be sure a genetic test is valid and useful?
• What do the results of genetic tests mean?
• What is the cost of genetic testing, and how long does it take to get the results?
• Will health insurance cover the costs of genetic testing?
• What are the benefits of genetic testing?
• What are the risks and limitations of genetic testing?
• What is genetic discrimination?
• Can genes be patented?
• How does genetic testing in a research setting differ from clinical genetic testing?
• What are whole exome sequencing and whole genome sequencing?
• What are secondary findings from genetic testing?
• What is noninvasive prenatal testing (NIPT) and what disorders can it screen for?
• What is circulating tumor DNA and how is it used to diagnose and manage cancer?

Forms and Documents

Test Info Sheet Test Requisition Form

Test Details

Genes:

PAH

Disorders:

• Phenylketonuria

Clinical Utility:

• Confirmation of a biochemical diagnosis
• Carrier testing for at-risk relatives
• Risk assessment
• Prenatal diagnosis in families with an affected child and known mutations

Lab Method:

• Capillary Sequencing

Ordering

Test Code:

273

Turnaround Time:

4-5 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Oral Rinse (30-40 mL) | Buccal Swabs

CPT Codes:

81406x1

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https://www.babycenter.com/0_carrier-screening-for-inherited-genetic-disorders_1453030.bc

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1684636/




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