Hem 265 Rar
Hem 265 rar
CMS Internet-Only Manual, Publication 100-04, Medicare Claims Processing Manual, Ch. 16, 50.5 Jurisdiction of Laboratory Claims, 60.1.2 Independent Laboratory Specimen Drawing, 60.2. Travel Allowance.
Revision Explanation: Under CPT/HCPCS Codes Group#1: Codes the description was revised for 0016M, 0229U, and 0306U. Under CPT/HCPCS Codes Group 1: Codes added 0323U, 0326U, 0329U, 0330U, 0331U. This revision is due to the Q3 2022 CPT/HCPCS Code Update and is effective on July 1, 2022.
Under CPT/HCPCS Codes Group 1: Paragraph added the verbiage The codes listed below fall within scope of the associated policy but do not automatically imply coverage. This revision is effective January 1, 2022.
Revision Explanation: Under CPT/HCPCS Codes Group 1: Codes added 0258U, 0260U, 0262U, 0264U, 0265U, 0266U, 0267U, 0268U, 0269U, 0270U, 0271U, 0272U, 0273U, 0274U, 0276U, 0277U, 0278U, 0282U and deleted 0168U. This revision is due to the Q4 2021 CPT/HCPCS Code Update and is effective for dates of service on or after 10/1/2021.
Under CPT/HCPCS Codes Group 1: Codes added 0016M. This revision is due to coding that is applicable to the MolDX program and is retroactive effective for dates of service on or after 1/1/2021.
Under CPT/HCPCS Group 1: Codes added 0017M and deleted 0105U. This revision is due to coding that is applicable to the MolDX program and is retroactive effective for dates of service on or after 1/1/2021.
Revision Explanation: New PLA codes 0084U-0103U were added during the conversion of moving codes from the policy and placing into a related billing and coding article as they were effective 07/01/2019. this was left off the revision 1 explanation when the article was converted to the billing and coding article template.
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NORD gratefully acknowledges Grace M. Hobson, PhD, Principal Research Scientist Emeritus, Alfred I. duPont Hospital for Children, Nemours Biomedical Research, for assistance in the preparation of this report.
Pelizaeus-Merzbacher disease (PMD) is a rare X-linked genetic disorder affecting the central nervous system that is associated with abnormalities of the white matter of the brain and spinal cord. It is one of the leukodystrophies in which disease is due to abnormal development of one or more components (predominantly fats or proteins) that make up the white matter (myelin sheath) of the brain. The myelin sheath is the protective covering of the nerve and nerves cannot function normally without it. In PMD, many areas of the central nervous system may be affected, including the deep portions of the cerebrum (subcortical), cerebellum, brain stem and spinal cord. Signs may include the impaired ability to coordinate movement (ataxia), involuntary muscle spasms (spasticity) that result in slow, stiff movements of the legs, delays in reaching developmental milestones, late onset loss of motor abilities, and progressive deterioration of intellectual function. The neurologic signs of PMD are usually slowly progressive.
The signs of PMD may vary widely from person to person. The signs of the classical form of PMD usually begin during early infancy, typically before 2 months of age. Initially, affected infants may fail to develop normal control of the head and eyes, specifically abnormal head bobbing and rapid, involuntary, jerky eye movements (nystagmus). Abnormally slow growth may also be an early sign. As affected infants and children age, additional signs may become apparent, including muscle tremors, weakness, facial grimacing, lack of muscle tone (hypotonia), impaired ability to coordinate voluntary movements (ataxia), and/or impairment in the acquisition of skills requiring the coordination of muscular and mental activities (psychomotor retardation) including delays in reaching developmental milestones such as sitting, standing, and walking. Affected individuals may also develop involuntary muscle spasms (spasticity) that result in slow, stiff movements of the legs and potentially partial paralysis of the arms and legs (spastic quadriparesis); abnormal, permanent fixation of certain joints (contractures); progressive degeneration of the nerves that lead to the eyes (optic atrophy); and/or difficulty speaking (dysarthria). As some affected children age, nystagmus may disappear. Some children may also develop skeletal deformities secondary to the severe spasticity that typically develops over time.
The signs of connatal PMD are present at birth or are observed during the first few weeks of life. This form of the disorder is characterized by weakness, spasticity, high-pitched sound when breathing (stridor), nystagmus, and seizures. Severe difficulty while swallowing (dysphagia) may also occur, necessitating gastrostomy feeding. Affected infants may also exhibit deterioration of mental functions and failure to reach developmental milestones such as speaking and walking. The progression of this form of PMD is more rapid and severe than the classic form and is often fatal during childhood.
Transitional PMD is a form of disease that is intermediate between the classical and connatal forms. The signs are similar to those of the classical and connatal forms of the disorder. However, the rate of progression is faster than the classical form but slower than the connatal form.
PMD is inherited as an X-linked recessive genetic disorder that affects mostly males. X-linked genetic disorders are conditions caused by an abnormal gene on the X chromosome. Females that have a disease gene present on one of their two X chromosomes are carriers for that disorder. Female carriers usually do not display symptoms because one of their two X chromosomes is inactivated so that the genes on that chromosome are nonfunctioning. It is usually the X chromosome with the abnormal gene that is inactivated. Males have one X chromosome that is inherited from their mother, and if a male inherits an X chromosome that contains a disease gene, he will develop the disease.
Female carriers of PMD have a 25% chance with each pregnancy to have a carrier daughter like themselves, a 25% chance to have a non-carrier daughter, a 25% chance to have a son affected with the disease and a 25% chance to have an unaffected son. Females from families where males have a milder phenotype, such as SPG2 or the PLP1 null syndrome, should be more cautiously counseled. In some of these families, the disorder behaves more like an X-linked dominant disorder with reduced penetrance in which females can be affected but less severely than the affected males in the family.
The classical and connatal forms of PMD affect males far more often than females. In rare cases, heterozygous females will exhibit some of the signs associated with the disorder. However, in the milder forms of PMD and the allelic SPG2 and HEMS, carrier females may be affected.
A diagnosis of PMD may be suspected based upon a thorough clinical evaluation, a detailed patient history, and a variety of specialized tests such as magnetic resonance imaging (MRI) to detect deficiency of white matter. Recognition of early myelination defects, such as lack of myelination in the cerebellum and brainstem, may aide in early diagnosis of the severe forms of PMD. Molecular genetic testing for the PLP1 gene is available to confirm the diagnosis.
There is no standard treatment method or regimen for individuals with PMD. Treatment is based upon specific symptoms present such as medications that prevent seizures or those used for movement disorders. Supportive care, including emotional support for family members, is recommended as needed.
Yamamoto-Shimojima K, et al. Elucidation of the pathogenic mechanism and potential treatment strategy for a female patient with spastic paraplegia derived from a single-nucleotide deletion in PLP1. J Hum Genet. 2019;64:665-671.
Margraf RL, et al. Novel PLP1 mutations identified with next-generation sequencing expand the spectrum of PLP1-associated leukodystrophy clinical phenotypes. Child Neurol Open. 2018;5:2329048X18789282.
Osório MJ, et al. Concise Review: Stem Cell-Based Treatment of Pelizaeus-Merzbacher Disease. Stem Cells 2017;35:311-315.Sarret C et al. Time-course of myelination and atrophy on cerebral imaging in 35 patients with PLP1-related disorders. Dev Med Child Neurol. 2016;58:706-713.
Grossi S, et al. Molecular genetic analysis of the PLP1 gene in 38 families with PLP1-related disorders: identification and functional characterization of 11 novel PLP1 mutations. Orphanet J Rare Dis. 2011;6:40.
Combes P, et al. PLP1 and GPM6B intragenic copy number analysis by MAPH in 262 patients with hypomyelinating leukodystrophies: Identification of one partial triplication and two partial deletions of PLP1.Neurogenetics 2006;7:31-37.
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