Geneticsreferral Guidance Sheet Qualifying Genetics Conditions

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Geneticsreferral Guidance Sheet Qualifying Genetics Conditions

Genetics Referral Guidance Sheet To qualify for a wish, a child must meet these criteria at the time of referral: 1. Older than 2½ years and younger than 18 years 2. Has not received a wish from another wish-granting organization 3. Diagnosed with a critical illness (i.e. a progressive, degenerative or malignant condition) that, despite adherence to the treatment plan, is currently placing the child’s life in jeopardy 4. Qualifying Genetics Conditions: Aicardi Goutieres disease Metachromatic leukodystrophy Alexander disease (symptomatic) Mucopolysaccharidosis disorders (symptomatic) Barth syndrome o Hunter syndrome Congenital anomaly, chromosomal or o Hurler disease single-gene condition with associated o Sanfilippo syndrome life-threatening complications such as: Niemann-Pick disease o Intractable/refractory/treatment-resistant Peroxisomal disorder seizures Pyruvate dehydrogenase deficiency with o Structural upper airway abnormalities or progression of disease chronic pulmonary symptoms Skeletal dysplasias or dysostosis with o Heart anomalies meeting cardiology chronic or degenerative pulmonary criteria complications o Kidney dysfunction meeting nephrology Sphingolipidosis with symptoms in the criteria pediatric period o Associated major gastrointestinal o Tay-Sachs dysfunctions leading to TPN dependency o GM1 gangliosidosis Gaucher disease, type II Trisomy 13 Infantile Pompe Trisomy 18 Krabbe disease Urea cycle (CPS, OTC, citrullinemia) and Leigh disease with MRI changes organic acidemia disorders (methylmalonic and propionic) with a history of Lesch-Nyhan syndrome hyperammonemic event Maple syrup urine disease with a history X-linked adrenal leukodystrophy with of hyperuremic event adrenal or brain findings There are other conditions that may be eligible for a wish when the condition includes life-threatening comorbidities that are currently placing the child’s life in jeopardy. These conditions will be reviewed on a case-by-case basis. Please include detailed information on these conditions when submitting the Diagnosis Verification Form. TO REFER: Visit md.wish.org and submit the referral to start the process for your patient. If you have questions about eligibility or the referral process, please contact your local chapter. Updated 10/2020 .

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SUPPLEMENTARY MATERIAL Effect of Next
SUPPLEMENTARY MATERIAL Effect of Next-Generation Exome Sequencing Depth for Discovery of Diagnostic Variants KKyung Kim1,2,3†, Moon-Woo Seong4†, Won-Hyong Chung3, Sung Sup Park4, Sangseob Leem1, Won Park5,6, Jihyun Kim1,2, KiYoung Lee1,2*‡, Rae Woong Park1,2* and Namshin Kim5,6** 1Department of Biomedical Informatics, Ajou University School of Medicine, Suwon 443-749, Korea 2Department of Biomedical Science, Graduate School, Ajou University, Suwon 443-749, Korea, 3Korean Bioinformation Center, Korea Research Institute of Bioscience and Biotechnology, Daejeon 305-806, Korea, 4Department of Laboratory Medicine, Seoul National University Hospital College of Medicine, Seoul 110-799, Korea, 5Department of Functional Genomics, Korea University of Science and Technology, Daejeon 305-806, Korea, 6Epigenomics Research Center, Genome Institute, Korea Research Institute of Bioscience and Biotechnology, Daejeon 305-806, Korea http//www. genominfo.org/src/sm/gni-13-31-s001.pdf Supplementary Table 1. List of diagnostic genes Gene Symbol Description Associated diseases ABCB11 ATP-binding cassette, sub-family B (MDR/TAP), member 11 Intrahepatic cholestasis ABCD1 ATP-binding cassette, sub-family D (ALD), member 1 Adrenoleukodystrophy ACVR1 Activin A receptor, type I Fibrodysplasia ossificans progressiva AGL Amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase Glycogen storage disease ALB Albumin Analbuminaemia APC Adenomatous polyposis coli Adenomatous polyposis coli APOE Apolipoprotein E Apolipoprotein E deficiency AR Androgen receptor Androgen insensitivity
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